Canonical Allele Identifier: CA381569576

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803942A>T (hg19) ; chr11:g.68036475A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036475A>T , CM000673.2:g.68036475A>T	GRCh38
NC_000011.9:g.67803942A>T , CM000673.1:g.67803942A>T	GRCh37
NC_000011.8:g.67560518A>T	NCBI36
NG_007878.1:g.2460A>T , LRG_115:g.2460A>T
NG_017040.1:g.10859A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.515A>T MANE Select	ENSP00000315774.5:p.Glu172Val
ENST00000313468.9:c.515A>T	ENSP00000315774.5:p.Glu172Val
ENST00000524810.5:c.447A>T
ENST00000526339.5:c.515A>T	ENSP00000436287.1:p.Glu172Val
ENST00000526446.5:c.*570A>T	ENSP00000433645.1:n.*570A>T
ENST00000528492.1:c.77A>T	ENSP00000432848.1:p.Glu26Val
ENST00000531282.1:n.367A>T
NM_002496.3:c.515A>T	NP_002487.1:p.Glu172Val
XM_005274013.1:c.515A>T	XP_005274070.1:p.Glu172Val
XM_005274014.1:c.515A>T	XP_005274071.1:p.Glu172Val
XM_005274015.1:c.395A>T	XP_005274072.1:p.Glu132Val
XM_011545053.1:c.515A>T	XP_011543355.1:p.Glu172Val
NM_002496.4:c.515A>T MANE Select	NP_002487.1:p.Glu172Val