Canonical Allele Identifier: CA380362126

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47604022T>A (hg19) ; chr11:g.47582470T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582470T>A , CM000673.2:g.47582470T>A	GRCh38
NC_000011.9:g.47604022T>A , CM000673.1:g.47604022T>A	GRCh37
NC_000011.8:g.47560598T>A	NCBI36
NG_011946.1:g.8461T>A
NG_011946.2:g.8461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.627+2T>A MANE Select	ENSP00000263774.4:n.627+2T>A
ENST00000531351.2:n.1822+2T>A
ENST00000677462.1:n.3101+2T>A
ENST00000678975.1:n.2884+2T>A
ENST00000263774.8:c.627+2T>A	ENSP00000263774.4:n.627+2T>A
ENST00000524568.1:n.732T>A
ENST00000525212.1:n.282+2T>A
ENST00000525378.5:n.565+2T>A
ENST00000527178.1:n.227+2T>A
ENST00000533507.5:n.1521+2T>A
NM_004551.2:c.627+2T>A	NP_004542.1:n.627+2T>A
NM_004551.3:c.627+2T>A MANE Select	NP_004542.1:n.627+2T>A