Canonical Allele Identifier: CA118854
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 7512
dbSNP Id: rs121912638

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033216G>A , CM000673.2:g.68033216G>A GRCh38
NC_000011.9:g.67800683G>A , CM000673.1:g.67800683G>A GRCh37
NC_000011.8:g.67557259G>A NCBI36
NG_017040.1:g.7600G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000313468.10:c.305G>A MANE Select ENSP00000315774.5:p.Arg102His
ENST00000313468.9:c.305G>A ENSP00000315774.5:p.Arg102His
ENST00000432321.6:n.422G>A
ENST00000453471.6:c.305G>A ENSP00000403972.2:p.Arg102His
ENST00000524810.5:c.76G>A
ENST00000525419.5:c.251G>A ENSP00000433521.1:p.Arg84His
ENST00000525628.1:c.305G>A ENSP00000432968.1:p.Arg102His
ENST00000526339.5:c.305G>A ENSP00000436287.1:p.Arg102His
ENST00000526446.5:c.*360G>A ENSP00000433645.1:n.*360G>A
ENST00000528492.1:c.-67+2483G>A ENSP00000432848.1:n.-67+2483G>A
ENST00000529645.1:c.483G>A ENSP00000431293.1:n.483G>A
ENST00000531228.1:c.*147G>A ENSP00000433054.1:n.*147G>A
ENST00000532399.1:n.1010G>A
NM_002496.3:c.305G>A NP_002487.1:p.Arg102His
XM_005274013.1:c.305G>A XP_005274070.1:p.Arg102His
XM_005274014.1:c.305G>A XP_005274071.1:p.Arg102His
XM_005274015.1:c.185G>A XP_005274072.1:p.Arg62His
XM_011545053.1:c.305G>A XP_011543355.1:p.Arg102His
NM_002496.4:c.305G>A MANE Select NP_002487.1:p.Arg102His