Canonical Allele Identifier: CA381599491
Gene: NDUFS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033123C>T , CM000673.2:g.68033123C>T GRCh38
NC_000011.9:g.67800590C>T , CM000673.1:g.67800590C>T GRCh37
NC_000011.8:g.67557166C>T NCBI36
NG_017040.1:g.7507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.212C>T MANE Select ENSP00000315774.5:p.Thr71Ile
ENST00000313468.9:c.212C>T ENSP00000315774.5:p.Thr71Ile
ENST00000432321.6:n.329C>T
ENST00000453471.6:c.212C>T ENSP00000403972.2:p.Thr71Ile
ENST00000525419.5:c.158C>T ENSP00000433521.1:p.Thr53Ile
ENST00000525628.1:c.212C>T ENSP00000432968.1:p.Thr71Ile
ENST00000526339.5:c.212C>T ENSP00000436287.1:p.Thr71Ile
ENST00000526446.5:c.*267C>T ENSP00000433645.1:n.*267C>T
ENST00000528492.1:c.-67+2390C>T ENSP00000432848.1:n.-67+2390C>T
ENST00000529645.1:c.390C>T ENSP00000431293.1:n.390C>T
ENST00000531228.1:c.*54C>T ENSP00000433054.1:n.*54C>T
ENST00000532399.1:n.917C>T
NM_002496.3:c.212C>T NP_002487.1:p.Thr71Ile
XM_005274013.1:c.212C>T XP_005274070.1:p.Thr71Ile
XM_005274014.1:c.212C>T XP_005274071.1:p.Thr71Ile
XM_005274015.1:c.92C>T XP_005274072.1:p.Thr31Ile
XM_011545053.1:c.212C>T XP_011543355.1:p.Thr71Ile
NM_002496.4:c.212C>T MANE Select NP_002487.1:p.Thr71Ile