Canonical Allele Identifier: CA380362055

Gene: NDUFS3

Linked Data

• MyVariant Identifiers: chr11:g.47604007C>T (hg19) ; chr11:g.47582455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582455C>T , CM000673.2:g.47582455C>T	GRCh38
NC_000011.9:g.47604007C>T , CM000673.1:g.47604007C>T	GRCh37
NC_000011.8:g.47560583C>T	NCBI36
NG_011946.1:g.8446C>T
NG_011946.2:g.8446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.614C>T MANE Select	ENSP00000263774.4:p.Ser205Phe
ENST00000531351.2:n.1809C>T
ENST00000677462.1:n.3088C>T
ENST00000678975.1:n.2871C>T
ENST00000263774.8:c.614C>T	ENSP00000263774.4:p.Ser205Phe
ENST00000524568.1:n.717C>T
ENST00000525212.1:n.269C>T
ENST00000525378.5:n.552C>T
ENST00000527178.1:n.214C>T
ENST00000533507.5:n.1508C>T
NM_004551.2:c.614C>T	NP_004542.1:p.Ser205Phe
NM_004551.3:c.614C>T MANE Select	NP_004542.1:p.Ser205Phe