Canonical Allele Identifier: CA380361611

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603913T>A (hg19) ; chr11:g.47582361T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582361T>A , CM000673.2:g.47582361T>A	GRCh38
NC_000011.9:g.47603913T>A , CM000673.1:g.47603913T>A	GRCh37
NC_000011.8:g.47560489T>A	NCBI36
NG_011946.1:g.8352T>A
NG_011946.2:g.8352T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.520T>A MANE Select	ENSP00000263774.4:p.Phe174Ile
ENST00000531351.2:n.1715T>A
ENST00000677462.1:n.2994T>A
ENST00000678975.1:n.2777T>A
ENST00000263774.8:c.520T>A	ENSP00000263774.4:p.Phe174Ile
ENST00000524568.1:n.623T>A
ENST00000525212.1:n.175T>A
ENST00000525378.5:n.458T>A
ENST00000527178.1:n.120T>A
ENST00000533507.5:n.1414T>A
NM_004551.2:c.520T>A	NP_004542.1:p.Phe174Ile
NM_004551.3:c.520T>A MANE Select	NP_004542.1:p.Phe174Ile