Canonical Allele Identifier: CA381570413

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804040G>A (hg19) ; chr11:g.68036573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036573G>A , CM000673.2:g.68036573G>A	GRCh38
NC_000011.9:g.67804040G>A , CM000673.1:g.67804040G>A	GRCh37
NC_000011.8:g.67560616G>A	NCBI36
NG_007878.1:g.2558G>A , LRG_115:g.2558G>A
NG_017040.1:g.10957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.613G>A MANE Select	ENSP00000315774.5:p.Ala205Thr
ENST00000313468.9:c.613G>A	ENSP00000315774.5:p.Ala205Thr
ENST00000524810.5:c.545G>A
ENST00000528492.1:c.175G>A	ENSP00000432848.1:p.Ala59Thr
ENST00000531282.1:n.465G>A
NM_002496.3:c.613G>A	NP_002487.1:p.Ala205Thr
XM_005274013.1:c.613G>A	XP_005274070.1:p.Ala205Thr
XM_005274014.1:c.613G>A	XP_005274071.1:p.Ala205Thr
XM_005274015.1:c.493G>A	XP_005274072.1:p.Ala165Thr
XM_011545053.1:c.613G>A	XP_011543355.1:p.Ala205Thr
NM_002496.4:c.613G>A MANE Select	NP_002487.1:p.Ala205Thr