Canonical Allele Identifier: CA5978011

Gene: NDUFS3

Linked Data

• dbSNP Id: rs749615057
• ExAC: 11:47603803 C / T
• gnomAD v2: 11-47603803-C-T
• gnomAD v3: 11-47582251-C-T
• gnomAD v4: 11-47582251-C-T
• MyVariant Identifiers: chr11:g.47603803C>T (hg19) ; chr11:g.47582251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582251C>T , CM000673.2:g.47582251C>T	GRCh38
NC_000011.9:g.47603803C>T , CM000673.1:g.47603803C>T	GRCh37
NC_000011.8:g.47560379C>T	NCBI36
NG_011946.1:g.8242C>T
NG_011946.2:g.8242C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.507+38C>T MANE Select	ENSP00000263774.4:n.507+38C>T
ENST00000531351.2:n.1605C>T
ENST00000677462.1:n.2981+38C>T
ENST00000678975.1:n.2764+38C>T
ENST00000263774.8:c.507+38C>T	ENSP00000263774.4:n.507+38C>T
ENST00000524568.1:n.610+38C>T
ENST00000525212.1:n.162+38C>T
ENST00000525378.5:n.445+38C>T
ENST00000527178.1:n.10C>T
ENST00000533507.5:n.1401+38C>T
NM_004551.2:c.507+38C>T	NP_004542.1:n.507+38C>T
NM_004551.3:c.507+38C>T MANE Select	NP_004542.1:n.507+38C>T