Canonical Allele Identifier: CA677045007

Gene: NDUFS3

Linked Data

• dbSNP Id: rs1437542128
• gnomAD v3: 11-47582286-GTA-G
• gnomAD v4: 11-47582286-GTA-G
• MyVariant Identifiers: chr11:g.47603839_47603840del (hg19) ; chr11:g.47582287_47582288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582287_47582288del , CM000673.2:g.47582287_47582288del	GRCh38
NC_000011.9:g.47603839_47603840del , CM000673.1:g.47603839_47603840del	GRCh37
NC_000011.8:g.47560415_47560416del	NCBI36
NG_011946.1:g.8278_8279del
NG_011946.2:g.8278_8279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.508-62_508-61del MANE Select	ENSP00000263774.4:n.508-62_508-61del
ENST00000531351.2:n.1641_1642del
ENST00000677462.1:n.2982-62_2982-61del
ENST00000678975.1:n.2765-62_2765-61del
ENST00000263774.8:c.508-62_508-61del	ENSP00000263774.4:n.508-62_508-61del
ENST00000524568.1:n.611-62_611-61del
ENST00000525212.1:n.163-62_163-61del
ENST00000525378.5:n.446-62_446-61del
ENST00000527178.1:n.46_47del
ENST00000533507.5:n.1402-62_1402-61del
NM_004551.2:c.508-62_508-61del	NP_004542.1:n.508-62_508-61del
NM_004551.3:c.508-62_508-61del MANE Select	NP_004542.1:n.508-62_508-61del