ClinVar

NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119024914 (on Assembly GRCh38)
• Chr11: 118895624 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)

HGVS:

• NC_000011.10:g.119024914T>G
• NG_013331.1:g.10992A>C
• NM_001164277.2:c.1286A>CMANE SELECT
• NM_001164278.2:c.1352A>C
• NM_001164279.2:c.1067A>C
• NM_001164280.2:c.1286A>C
• NM_001467.6:c.1286A>C
• NP_001157749.1:p.Glu429Ala
• NP_001157749.1:p.Glu429Ala
• NP_001157750.1:p.Glu451Ala
• NP_001157751.1:p.Glu356Ala
• NP_001157752.1:p.Glu429Ala
• NP_001458.1:p.Glu429Ala
• LRG_187t1:c.1286A>C
• LRG_187:g.10992A>C
• LRG_187p1:p.Glu429Ala
• NC_000011.9:g.118895624T>G
• NM_001164277.1:c.1286A>C

This HGVS expression did not pass validation

Protein change:

E356A

Links:

dbSNP: rs149974794

NCBI 1000 Genomes Browser:

rs149974794

Molecular consequence:

• NM_001164277.2:c.1286A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164278.2:c.1352A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164279.2:c.1067A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164280.2:c.1286A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001467.6:c.1286A>C - missense variant - [Sequence Ontology: SO:0001583]