Canonical Allele Identifier: CA10503518
Gene: NDUFA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 378240
ClinVar RCV Id: RCV000432422
dbSNP Id: rs762694685
ExAC: X:119005842 A / C
gnomAD v2: X-119005842-A-C
gnomAD v3: X-119871879-A-C
gnomAD v4: X-119871879-A-C
MyVariant Identifiers: chrX:g.119005842A>C (hg19) chrX:g.119871879A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.119871879A>C , CM000685.2:g.119871879A>C GRCh38
NC_000023.10:g.119005842A>C , CM000685.1:g.119005842A>C GRCh37
NC_000023.9:g.118889870A>C NCBI36
NG_009381.1:g.5109A>C
NG_021227.1:g.4950T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371437.5:c.-33A>C MANE Select ENSP00000360492.4:n.-33A>C
ENST00000371437.4:c.-33A>C ENSP00000360492.4:n.-33A>C
NM_004541.3:c.-33A>C NP_004532.1:n.-33A>C
NM_004541.4:c.-33A>C MANE Select NP_004532.1:n.-33A>C
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