Canonical Allele Identifier: CA5978013

Gene: NDUFS3

Linked Data

• dbSNP Id: rs774184651
• ExAC: 11:47603812 A / C
• gnomAD v2: 11-47603812-A-C
• gnomAD v4: 11-47582260-A-C
• MyVariant Identifiers: chr11:g.47603812A>C (hg19) ; chr11:g.47582260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582260A>C , CM000673.2:g.47582260A>C	GRCh38
NC_000011.9:g.47603812A>C , CM000673.1:g.47603812A>C	GRCh37
NC_000011.8:g.47560388A>C	NCBI36
NG_011946.1:g.8251A>C
NG_011946.2:g.8251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.507+47A>C MANE Select	ENSP00000263774.4:n.507+47A>C
ENST00000531351.2:n.1614A>C
ENST00000677462.1:n.2981+47A>C
ENST00000678975.1:n.2764+47A>C
ENST00000263774.8:c.507+47A>C	ENSP00000263774.4:n.507+47A>C
ENST00000524568.1:n.610+47A>C
ENST00000525212.1:n.162+47A>C
ENST00000525378.5:n.445+47A>C
ENST00000527178.1:n.19A>C
ENST00000533507.5:n.1401+47A>C
NM_004551.2:c.507+47A>C	NP_004542.1:n.507+47A>C
NM_004551.3:c.507+47A>C MANE Select	NP_004542.1:n.507+47A>C