Canonical Allele Identifier: CA6146432
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 378258
dbSNP Id: rs144125742

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033166G>A , CM000673.2:g.68033166G>A GRCh38
NC_000011.9:g.67800633G>A , CM000673.1:g.67800633G>A GRCh37
NC_000011.8:g.67557209G>A NCBI36
NG_017040.1:g.7550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.255G>A MANE Select ENSP00000315774.5:p.Pro85=
ENST00000313468.9:c.255G>A ENSP00000315774.5:p.Pro85=
ENST00000432321.6:n.372G>A
ENST00000453471.6:c.255G>A ENSP00000403972.2:p.Pro85=
ENST00000524810.5:c.26G>A
ENST00000525419.5:c.201G>A ENSP00000433521.1:p.Pro67=
ENST00000525628.1:c.255G>A ENSP00000432968.1:p.Pro85=
ENST00000526339.5:c.255G>A ENSP00000436287.1:p.Pro85=
ENST00000526446.5:c.*310G>A ENSP00000433645.1:n.*310G>A
ENST00000528492.1:c.-67+2433G>A ENSP00000432848.1:n.-67+2433G>A
ENST00000529645.1:c.433G>A ENSP00000431293.1:n.433G>A
ENST00000531228.1:c.*97G>A ENSP00000433054.1:n.*97G>A
ENST00000532399.1:n.960G>A
NM_002496.3:c.255G>A NP_002487.1:p.Pro85=
XM_005274013.1:c.255G>A XP_005274070.1:p.Pro85=
XM_005274014.1:c.255G>A XP_005274071.1:p.Pro85=
XM_005274015.1:c.135G>A XP_005274072.1:p.Pro45=
XM_011545053.1:c.255G>A XP_011543355.1:p.Pro85=
NM_002496.4:c.255G>A MANE Select NP_002487.1:p.Pro85=