Canonical Allele Identifier: CA9119086

Gene: NDUFA11

Linked Data

• ClinVar Variation Id: 330244
• ClinVar RCV Id: RCV000336107 ; RCV001712053
• dbSNP Id: rs1056987
• ExAC: 19:5903936 T / C
• gnomAD v2: 19-5903936-T-C
• gnomAD v3: 19-5903925-T-C
• gnomAD v4: 19-5903925-T-C
• MyVariant Identifiers: chr19:g.5903936T>C (hg19) ; chr19:g.5903925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.5903925T>C , CM000681.2:g.5903925T>C	GRCh38
NC_000019.9:g.5903936T>C , CM000681.1:g.5903936T>C	GRCh37
NC_000019.8:g.5854936T>C	NCBI36
NG_027808.1:g.5089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591160.1:n.82A>G
NM_001193375.1:c.-217A>G	NP_001180304.1:n.-217A>G
NM_175614.4:c.-217A>G	NP_783313.1:n.-217A>G
NR_034166.2:n.89A>G