Canonical Allele Identifier: CA221735656

Gene: NDUFS3

Linked Data

• dbSNP Id: rs200601876
• gnomAD v4: 11-47582293-C-T
• MyVariant Identifiers: chr11:g.47603845C>T (hg19) ; chr11:g.47582293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582293C>T , CM000673.2:g.47582293C>T	GRCh38
NC_000011.9:g.47603845C>T , CM000673.1:g.47603845C>T	GRCh37
NC_000011.8:g.47560421C>T	NCBI36
NG_011946.1:g.8284C>T
NG_011946.2:g.8284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.508-56C>T MANE Select	ENSP00000263774.4:n.508-56C>T
ENST00000531351.2:n.1647C>T
ENST00000677462.1:n.2982-56C>T
ENST00000678975.1:n.2765-56C>T
ENST00000263774.8:c.508-56C>T	ENSP00000263774.4:n.508-56C>T
ENST00000524568.1:n.611-56C>T
ENST00000525212.1:n.163-56C>T
ENST00000525378.5:n.446-56C>T
ENST00000527178.1:n.52C>T
ENST00000533507.5:n.1402-56C>T
NM_004551.2:c.508-56C>T	NP_004542.1:n.508-56C>T
NM_004551.3:c.508-56C>T MANE Select	NP_004542.1:n.508-56C>T