Canonical Allele Identifier: CA381569782
Gene: NDUFS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036506_68036507del , CM000673.2:g.68036506_68036507del GRCh38
NC_000011.9:g.67803973_67803974del , CM000673.1:g.67803973_67803974del GRCh37
NC_000011.8:g.67560549_67560550del NCBI36
NG_007878.1:g.2491_2492del , LRG_115:g.2491_2492del
NG_017040.1:g.10890_10891del

Transcript Alleles

HGVS Amino-acid change
ENST00000313468.10:c.546_547del MANE Select ENSP00000315774.5:p.Tyr183GlnfsTer23
ENST00000313468.9:c.546_547del ENSP00000315774.5:p.Tyr183GlnfsTer23
ENST00000524810.5:c.478_479del
ENST00000526339.5:c.546_547del ENSP00000436287.1:p.Tyr183GlnfsTer?
ENST00000526446.5:c.*601_*602del ENSP00000433645.1:n.*601_*602del
ENST00000528492.1:c.108_109del ENSP00000432848.1:p.Tyr37GlnfsTer23
ENST00000531282.1:n.398_399del
NM_002496.3:c.546_547del NP_002487.1:p.Tyr183GlnfsTer23
XM_005274013.1:c.546_547del XP_005274070.1:p.Tyr183GlnfsTer23
XM_005274014.1:c.546_547del XP_005274071.1:p.Tyr183GlnfsTer23
XM_005274015.1:c.426_427del XP_005274072.1:p.Tyr143GlnfsTer23
XM_011545053.1:c.546_547del XP_011543355.1:p.Tyr183GlnfsTer23
NM_002496.4:c.546_547del MANE Select NP_002487.1:p.Tyr183GlnfsTer23