Canonical Allele Identifier: CA6146512
Gene: NDUFS8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477397
ClinVar RCV Id: RCV001998349
dbSNP Id: rs1554992183

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036260C>T , CM000673.2:g.68036260C>T GRCh38
NC_000011.9:g.67803727C>T , CM000673.1:g.67803727C>T GRCh37
NC_000011.8:g.67560303C>T NCBI36
NG_007878.1:g.2245C>T , LRG_115:g.2245C>T
NG_017040.1:g.10644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.380C>T MANE Select ENSP00000315774.5:p.Thr127Ile
ENST00000313468.9:c.380C>T ENSP00000315774.5:p.Thr127Ile
ENST00000524810.5:c.312C>T
ENST00000525419.5:c.326C>T ENSP00000433521.1:p.Thr109Ile
ENST00000526339.5:c.380C>T ENSP00000436287.1:p.Thr127Ile
ENST00000526446.5:c.*435C>T ENSP00000433645.1:n.*435C>T
ENST00000526542.1:n.331C>T
ENST00000528492.1:c.-59C>T ENSP00000432848.1:n.-59C>T
ENST00000531282.1:n.232C>T
NM_002496.3:c.380C>T NP_002487.1:p.Thr127Ile
XM_005274013.1:c.380C>T XP_005274070.1:p.Thr127Ile
XM_005274014.1:c.380C>T XP_005274071.1:p.Thr127Ile
XM_005274015.1:c.260C>T XP_005274072.1:p.Thr87Ile
XM_011545053.1:c.380C>T XP_011543355.1:p.Thr127Ile
NM_002496.4:c.380C>T MANE Select NP_002487.1:p.Thr127Ile