Canonical Allele Identifier: CA381567492
Gene: NDUFS8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033282A>T , CM000673.2:g.68033282A>T GRCh38
NC_000011.9:g.67800749A>T , CM000673.1:g.67800749A>T GRCh37
NC_000011.8:g.67557325A>T NCBI36
NG_017040.1:g.7666A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.371A>T MANE Select ENSP00000315774.5:p.Gln124Leu
ENST00000313468.9:c.371A>T ENSP00000315774.5:p.Gln124Leu
ENST00000432321.6:n.488A>T
ENST00000453471.6:c.371A>T ENSP00000403972.2:p.Gln124Leu
ENST00000524810.5:c.142A>T
ENST00000525419.5:c.317A>T ENSP00000433521.1:p.Gln106Leu
ENST00000526339.5:c.371A>T ENSP00000436287.1:p.Gln124Leu
ENST00000526446.5:c.*426A>T ENSP00000433645.1:n.*426A>T
ENST00000528492.1:c.-67+2549A>T ENSP00000432848.1:n.-67+2549A>T
ENST00000529645.1:c.549A>T ENSP00000431293.1:n.549A>T
ENST00000532399.1:n.1076A>T
NM_002496.3:c.371A>T NP_002487.1:p.Gln124Leu
XM_005274013.1:c.371A>T XP_005274070.1:p.Gln124Leu
XM_005274014.1:c.371A>T XP_005274071.1:p.Gln124Leu
XM_005274015.1:c.251A>T XP_005274072.1:p.Gln84Leu
XM_011545053.1:c.371A>T XP_011543355.1:p.Gln124Leu
NM_002496.4:c.371A>T MANE Select NP_002487.1:p.Gln124Leu