Canonical Allele Identifier: CA6146452
Gene: NDUFS8 HGNC NCBI

Linked Data

dbSNP Id: rs749849517

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033269A>G , CM000673.2:g.68033269A>G GRCh38
NC_000011.9:g.67800736A>G , CM000673.1:g.67800736A>G GRCh37
NC_000011.8:g.67557312A>G NCBI36
NG_017040.1:g.7653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.358A>G MANE Select ENSP00000315774.5:p.Ile120Val
ENST00000313468.9:c.358A>G ENSP00000315774.5:p.Ile120Val
ENST00000432321.6:n.475A>G
ENST00000453471.6:c.358A>G ENSP00000403972.2:p.Ile120Val
ENST00000524810.5:c.129A>G
ENST00000525419.5:c.304A>G ENSP00000433521.1:p.Ile102Val
ENST00000526339.5:c.358A>G ENSP00000436287.1:p.Ile120Val
ENST00000526446.5:c.*413A>G ENSP00000433645.1:n.*413A>G
ENST00000528492.1:c.-67+2536A>G ENSP00000432848.1:n.-67+2536A>G
ENST00000529645.1:c.536A>G ENSP00000431293.1:n.536A>G
ENST00000532399.1:n.1063A>G
NM_002496.3:c.358A>G NP_002487.1:p.Ile120Val
XM_005274013.1:c.358A>G XP_005274070.1:p.Ile120Val
XM_005274014.1:c.358A>G XP_005274071.1:p.Ile120Val
XM_005274015.1:c.238A>G XP_005274072.1:p.Ile80Val
XM_011545053.1:c.358A>G XP_011543355.1:p.Ile120Val
NM_002496.4:c.358A>G MANE Select NP_002487.1:p.Ile120Val