Canonical Allele Identifier: CA5978017

Gene: NDUFS3

Linked Data

• dbSNP Id: rs375077765
• ExAC: 11:47603852 CTGT / C
• gnomAD v2: 11-47603852-CTGT-C
• gnomAD v3: 11-47582300-CTGT-C
• gnomAD v4: 11-47582300-CTGT-C
• MyVariant Identifiers: chr11:g.47603853_47603855del (hg19) ; chr11:g.47582302_47582304del (hg38) ; chr11:g.47582301_47582303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47582305_47582307del , CM000673.2:g.47582305_47582307del	GRCh38
NC_000011.9:g.47603857_47603859del , CM000673.1:g.47603857_47603859del	GRCh37
NC_000011.8:g.47560433_47560435del	NCBI36
NG_011946.1:g.8296_8298del
NG_011946.2:g.8296_8298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263774.9:c.508-44_508-42del MANE Select	ENSP00000263774.4:n.508-44_508-42del
ENST00000531351.2:n.1659_1661del
ENST00000677462.1:n.2982-44_2982-42del
ENST00000678975.1:n.2765-44_2765-42del
ENST00000263774.8:c.508-44_508-42del	ENSP00000263774.4:n.508-44_508-42del
ENST00000524568.1:n.611-44_611-42del
ENST00000525212.1:n.163-44_163-42del
ENST00000525378.5:n.446-44_446-42del
ENST00000527178.1:n.64_66del
ENST00000533507.5:n.1402-44_1402-42del
NM_004551.2:c.508-44_508-42del	NP_004542.1:n.508-44_508-42del
NM_004551.3:c.508-44_508-42del MANE Select	NP_004542.1:n.508-44_508-42del