Canonical Allele Identifier: CA380362107

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47604018G>T (hg19) ; chr11:g.47582466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582466G>T , CM000673.2:g.47582466G>T	GRCh38
NC_000011.9:g.47604018G>T , CM000673.1:g.47604018G>T	GRCh37
NC_000011.8:g.47560594G>T	NCBI36
NG_011946.1:g.8457G>T
NG_011946.2:g.8457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.625G>T MANE Select	ENSP00000263774.4:p.Glu209Ter
ENST00000531351.2:n.1820G>T
ENST00000677462.1:n.3099G>T
ENST00000678975.1:n.2882G>T
ENST00000263774.8:c.625G>T	ENSP00000263774.4:p.Glu209Ter
ENST00000524568.1:n.728G>T
ENST00000525212.1:n.280G>T
ENST00000525378.5:n.563G>T
ENST00000527178.1:n.225G>T
ENST00000533507.5:n.1519G>T
NM_004551.2:c.625G>T	NP_004542.1:p.Glu209Ter
NM_004551.3:c.625G>T MANE Select	NP_004542.1:p.Glu209Ter