Canonical Allele Identifier: CA380361571

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603908A>C (hg19) ; chr11:g.47582356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582356A>C , CM000673.2:g.47582356A>C	GRCh38
NC_000011.9:g.47603908A>C , CM000673.1:g.47603908A>C	GRCh37
NC_000011.8:g.47560484A>C	NCBI36
NG_011946.1:g.8347A>C
NG_011946.2:g.8347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.515A>C MANE Select	ENSP00000263774.4:p.Asp172Ala
ENST00000531351.2:n.1710A>C
ENST00000677462.1:n.2989A>C
ENST00000678975.1:n.2772A>C
ENST00000263774.8:c.515A>C	ENSP00000263774.4:p.Asp172Ala
ENST00000524568.1:n.618A>C
ENST00000525212.1:n.170A>C
ENST00000525378.5:n.453A>C
ENST00000527178.1:n.115A>C
ENST00000533507.5:n.1409A>C
NM_004551.2:c.515A>C	NP_004542.1:p.Asp172Ala
NM_004551.3:c.515A>C MANE Select	NP_004542.1:p.Asp172Ala