Canonical Allele Identifier: CA599375060

Gene: NDUFS3

Linked Data

• dbSNP Id: rs1293771300
• gnomAD v2: 11-47603895-T-C
• gnomAD v4: 11-47582343-T-C
• MyVariant Identifiers: chr11:g.47603895T>C (hg19) ; chr11:g.47582343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582343T>C , CM000673.2:g.47582343T>C	GRCh38
NC_000011.9:g.47603895T>C , CM000673.1:g.47603895T>C	GRCh37
NC_000011.8:g.47560471T>C	NCBI36
NG_011946.1:g.8334T>C
NG_011946.2:g.8334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263774.9:c.508-6T>C MANE Select	ENSP00000263774.4:n.508-6T>C
ENST00000531351.2:n.1697T>C
ENST00000677462.1:n.2982-6T>C
ENST00000678975.1:n.2765-6T>C
ENST00000263774.8:c.508-6T>C	ENSP00000263774.4:n.508-6T>C
ENST00000524568.1:n.611-6T>C
ENST00000525212.1:n.163-6T>C
ENST00000525378.5:n.446-6T>C
ENST00000527178.1:n.102T>C
ENST00000533507.5:n.1402-6T>C
NM_004551.2:c.508-6T>C	NP_004542.1:n.508-6T>C
NM_004551.3:c.508-6T>C MANE Select	NP_004542.1:n.508-6T>C