ClinVar

NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)

Gene:

ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 19671852 (on Assembly GRCh38)
• Chr17: 19575165 (on Assembly GRCh37)

Preferred name:

NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)

HGVS:

• NC_000017.11:g.19671852A>G
• NG_007095.2:g.28102A>G
• NM_000382.3:c.1339A>GMANE SELECT
• NM_001031806.2:c.1339A>G
• NM_001369136.1:c.1339A>G
• NM_001369137.2:c.1339A>G
• NM_001369138.2:c.1339A>G
• NM_001369139.1:c.1339A>G
• NM_001369146.2:c.1208-3706A>G
• NM_001369148.2:c.760A>G
• NP_000373.1:p.Lys447Glu
• NP_001026976.1:p.Lys447Glu
• NP_001356065.1:p.Lys447Glu
• NP_001356066.1:p.Lys447Glu
• NP_001356067.1:p.Lys447Glu
• NP_001356068.1:p.Lys447Glu
• NP_001356077.1:p.Lys254Glu
• NC_000017.10:g.19575165A>G
• NM_000382.2:c.1339A>G

This HGVS expression did not pass validation

Protein change:

K254E

Molecular consequence:

• NM_001369146.2:c.1208-3706A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_000382.3:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001031806.2:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369136.1:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369137.2:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369138.2:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369139.1:c.1339A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369148.2:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]