Canonical Allele Identifier: CA090926

Gene: NDUFA1

Linked Data

• ClinVar Variation Id: 36974
• ClinVar RCV Id: RCV000030653 ; RCV000173348 ; RCV000418299 ; RCV000990934 ; RCV002313724 ; RCV003924870
• dbSNP Id: rs1801316
• ExAC: X:119005968 G / C
• gnomAD v2: X-119005968-G-C
• gnomAD v3: X-119872005-G-C
• gnomAD v4: X-119872005-G-C
• MyVariant Identifiers: chrX:g.119005968G>C (hg19) ; chrX:g.119872005G>C (hg38)
• PubMed: PMID:19185523 ; PMID:21596602

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119872005G>C , CM000685.2:g.119872005G>C	GRCh38
NC_000023.10:g.119005968G>C , CM000685.1:g.119005968G>C	GRCh37
NC_000023.9:g.118889996G>C	NCBI36
NG_009381.1:g.5235G>C
NG_021227.1:g.4824C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371437.5:c.94G>C MANE Select	ENSP00000360492.4:p.Gly32Arg
ENST00000371437.4:c.94G>C	ENSP00000360492.4:p.Gly32Arg
NM_004541.3:c.94G>C	NP_004532.1:p.Gly32Arg
NM_004541.4:c.94G>C MANE Select	NP_004532.1:p.Gly32Arg