Canonical Allele Identifier: CA475442845
Gene: NDUFS8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67803982G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68036515G>A , CM000673.2:g.68036515G>A GRCh38
NC_000011.9:g.67803982G>A , CM000673.1:g.67803982G>A GRCh37
NC_000011.8:g.67560558G>A NCBI36
NG_007878.1:g.2500G>A , LRG_115:g.2500G>A
NG_017040.1:g.10899G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000313468.10:c.555G>A MANE Select ENSP00000315774.5:p.Lys185=
ENST00000313468.9:c.555G>A ENSP00000315774.5:p.Lys185=
ENST00000524810.5:c.487G>A
ENST00000526446.5:c.*610G>A ENSP00000433645.1:n.*610G>A
ENST00000528492.1:c.117G>A ENSP00000432848.1:p.Lys39=
ENST00000531282.1:n.407G>A
NM_002496.3:c.555G>A NP_002487.1:p.Lys185=
XM_005274013.1:c.555G>A XP_005274070.1:p.Lys185=
XM_005274014.1:c.555G>A XP_005274071.1:p.Lys185=
XM_005274015.1:c.435G>A XP_005274072.1:p.Lys145=
XM_011545053.1:c.555G>A XP_011543355.1:p.Lys185=
NM_002496.4:c.555G>A MANE Select NP_002487.1:p.Lys185=