ClinVar

NM_003491.4(NAA10):c.245G>A (p.Arg82Gln)

Gene:

NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153932412 (on Assembly GRCh38)
• ChrX: 153197865 (on Assembly GRCh37)

Preferred name:

NM_003491.4(NAA10):c.245G>A (p.Arg82Gln)

HGVS:

• NC_000023.11:g.153932412C>T
• NG_031987.1:g.7743G>A
• NG_031987.2:g.7625G>A
• NM_001256119.2:c.245G>A
• NM_001256120.2:c.227G>A
• NM_003491.4:c.245G>AMANE SELECT
• NP_001243048.1:p.Arg82Gln
• NP_001243049.1:p.Arg76Gln
• NP_003482.1:p.Arg82Gln
• NC_000023.10:g.153197865C>T
• NM_003491.3:c.245G>A

This HGVS expression did not pass validation

Protein change:

R76Q

Molecular consequence:

• NM_001256119.2:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256120.2:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003491.4:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]