Canonical Allele Identifier: CA380361795

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47603951G>T (hg19) ; chr11:g.47582399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582399G>T , CM000673.2:g.47582399G>T	GRCh38
NC_000011.9:g.47603951G>T , CM000673.1:g.47603951G>T	GRCh37
NC_000011.8:g.47560527G>T	NCBI36
NG_011946.1:g.8390G>T
NG_011946.2:g.8390G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.558G>T MANE Select	ENSP00000263774.4:p.Arg186Ser
ENST00000531351.2:n.1753G>T
ENST00000677462.1:n.3032G>T
ENST00000678975.1:n.2815G>T
ENST00000263774.8:c.558G>T	ENSP00000263774.4:p.Arg186Ser
ENST00000524568.1:n.661G>T
ENST00000525212.1:n.213G>T
ENST00000525378.5:n.496G>T
ENST00000527178.1:n.158G>T
ENST00000533507.5:n.1452G>T
NM_004551.2:c.558G>T	NP_004542.1:p.Arg186Ser
NM_004551.3:c.558G>T MANE Select	NP_004542.1:p.Arg186Ser