Canonical Allele Identifier: CA380361886

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603971T>A (hg19) ; chr11:g.47582419T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582419T>A , CM000673.2:g.47582419T>A	GRCh38
NC_000011.9:g.47603971T>A , CM000673.1:g.47603971T>A	GRCh37
NC_000011.8:g.47560547T>A	NCBI36
NG_011946.1:g.8410T>A
NG_011946.2:g.8410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.578T>A MANE Select	ENSP00000263774.4:p.Phe193Tyr
ENST00000531351.2:n.1773T>A
ENST00000677462.1:n.3052T>A
ENST00000678975.1:n.2835T>A
ENST00000263774.8:c.578T>A	ENSP00000263774.4:p.Phe193Tyr
ENST00000524568.1:n.681T>A
ENST00000525212.1:n.233T>A
ENST00000525378.5:n.516T>A
ENST00000527178.1:n.178T>A
ENST00000533507.5:n.1472T>A
NM_004551.2:c.578T>A	NP_004542.1:p.Phe193Tyr
NM_004551.3:c.578T>A MANE Select	NP_004542.1:p.Phe193Tyr