Canonical Allele Identifier: CA380361548

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603904T>C (hg19) ; chr11:g.47582352T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582352T>C , CM000673.2:g.47582352T>C	GRCh38
NC_000011.9:g.47603904T>C , CM000673.1:g.47603904T>C	GRCh37
NC_000011.8:g.47560480T>C	NCBI36
NG_011946.1:g.8343T>C
NG_011946.2:g.8343T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263774.9:c.511T>C MANE Select	ENSP00000263774.4:p.Trp171Arg
ENST00000531351.2:n.1706T>C
ENST00000677462.1:n.2985T>C
ENST00000678975.1:n.2768T>C
ENST00000263774.8:c.511T>C	ENSP00000263774.4:p.Trp171Arg
ENST00000524568.1:n.614T>C
ENST00000525212.1:n.166T>C
ENST00000525378.5:n.449T>C
ENST00000527178.1:n.111T>C
ENST00000533507.5:n.1405T>C
NM_004551.2:c.511T>C	NP_004542.1:p.Trp171Arg
NM_004551.3:c.511T>C MANE Select	NP_004542.1:p.Trp171Arg