Canonical Allele Identifier: CA380361580

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603910A>C (hg19) ; chr11:g.47582358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582358A>C , CM000673.2:g.47582358A>C	GRCh38
NC_000011.9:g.47603910A>C , CM000673.1:g.47603910A>C	GRCh37
NC_000011.8:g.47560486A>C	NCBI36
NG_011946.1:g.8349A>C
NG_011946.2:g.8349A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.517A>C MANE Select	ENSP00000263774.4:p.Met173Leu
ENST00000531351.2:n.1712A>C
ENST00000677462.1:n.2991A>C
ENST00000678975.1:n.2774A>C
ENST00000263774.8:c.517A>C	ENSP00000263774.4:p.Met173Leu
ENST00000524568.1:n.620A>C
ENST00000525212.1:n.172A>C
ENST00000525378.5:n.455A>C
ENST00000527178.1:n.117A>C
ENST00000533507.5:n.1411A>C
NM_004551.2:c.517A>C	NP_004542.1:p.Met173Leu
NM_004551.3:c.517A>C MANE Select	NP_004542.1:p.Met173Leu