Canonical Allele Identifier: CA474432211

Gene: NDUFS3

Linked Data

• gnomAD v4: 11-47582384-C-T
• MyVariant Identifiers: chr11:g.47603936C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582384C>T , CM000673.2:g.47582384C>T	GRCh38
NC_000011.9:g.47603936C>T , CM000673.1:g.47603936C>T	GRCh37
NC_000011.8:g.47560512C>T	NCBI36
NG_011946.1:g.8375C>T
NG_011946.2:g.8375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.543C>T MANE Select	ENSP00000263774.4:p.His181=
ENST00000531351.2:n.1738C>T
ENST00000677462.1:n.3017C>T
ENST00000678975.1:n.2800C>T
ENST00000263774.8:c.543C>T	ENSP00000263774.4:p.His181=
ENST00000524568.1:n.646C>T
ENST00000525212.1:n.198C>T
ENST00000525378.5:n.481C>T
ENST00000527178.1:n.143C>T
ENST00000533507.5:n.1437C>T
NM_004551.2:c.543C>T	NP_004542.1:p.His181=
NM_004551.3:c.543C>T MANE Select	NP_004542.1:p.His181=