Canonical Allele Identifier: CA200467

Gene: NDUFA1

Linked Data

• ClinVar Variation Id: 193286
• ClinVar RCV Id: RCV000173347 ; RCV000992421 ; RCV002316988
• dbSNP Id: rs201240353
• ExAC: X:119005871 A / G
• gnomAD v2: X-119005871-A-G
• gnomAD v3: X-119871908-A-G
• gnomAD v4: X-119871908-A-G
• MyVariant Identifiers: chrX:g.119005871A>G (hg19) ; chrX:g.119871908A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.119871908A>G , CM000685.2:g.119871908A>G	GRCh38
NC_000023.10:g.119005871A>G , CM000685.1:g.119005871A>G	GRCh37
NC_000023.9:g.118889899A>G	NCBI36
NG_009381.1:g.5138A>G
NG_021227.1:g.4921T>C

Transcript Alleles

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