Canonical Allele Identifier: CA381569909

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803985G>T (hg19) ; chr11:g.68036518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036518G>T , CM000673.2:g.68036518G>T	GRCh38
NC_000011.9:g.67803985G>T , CM000673.1:g.67803985G>T	GRCh37
NC_000011.8:g.67560561G>T	NCBI36
NG_007878.1:g.2503G>T , LRG_115:g.2503G>T
NG_017040.1:g.10902G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313468.10:c.558G>T MANE Select	ENSP00000315774.5:p.Glu186Asp
ENST00000313468.9:c.558G>T	ENSP00000315774.5:p.Glu186Asp
ENST00000524810.5:c.490G>T
ENST00000526446.5:c.*613G>T	ENSP00000433645.1:n.*613G>T
ENST00000528492.1:c.120G>T	ENSP00000432848.1:p.Glu40Asp
ENST00000531282.1:n.410G>T
NM_002496.3:c.558G>T	NP_002487.1:p.Glu186Asp
XM_005274013.1:c.558G>T	XP_005274070.1:p.Glu186Asp
XM_005274014.1:c.558G>T	XP_005274071.1:p.Glu186Asp
XM_005274015.1:c.438G>T	XP_005274072.1:p.Glu146Asp
XM_011545053.1:c.558G>T	XP_011543355.1:p.Glu186Asp
NM_002496.4:c.558G>T MANE Select	NP_002487.1:p.Glu186Asp