Canonical Allele Identifier: CA380361768

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603944T>G (hg19) ; chr11:g.47582392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582392T>G , CM000673.2:g.47582392T>G	GRCh38
NC_000011.9:g.47603944T>G , CM000673.1:g.47603944T>G	GRCh37
NC_000011.8:g.47560520T>G	NCBI36
NG_011946.1:g.8383T>G
NG_011946.2:g.8383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.551T>G MANE Select	ENSP00000263774.4:p.Leu184Arg
ENST00000531351.2:n.1746T>G
ENST00000677462.1:n.3025T>G
ENST00000678975.1:n.2808T>G
ENST00000263774.8:c.551T>G	ENSP00000263774.4:p.Leu184Arg
ENST00000524568.1:n.654T>G
ENST00000525212.1:n.206T>G
ENST00000525378.5:n.489T>G
ENST00000527178.1:n.151T>G
ENST00000533507.5:n.1445T>G
NM_004551.2:c.551T>G	NP_004542.1:p.Leu184Arg
NM_004551.3:c.551T>G MANE Select	NP_004542.1:p.Leu184Arg