Canonical Allele Identifier: CA381570073

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804002G>T (hg19) ; chr11:g.68036535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036535G>T , CM000673.2:g.68036535G>T	GRCh38
NC_000011.9:g.67804002G>T , CM000673.1:g.67804002G>T	GRCh37
NC_000011.8:g.67560578G>T	NCBI36
NG_007878.1:g.2520G>T , LRG_115:g.2520G>T
NG_017040.1:g.10919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.575G>T MANE Select	ENSP00000315774.5:p.Gly192Val
ENST00000313468.9:c.575G>T	ENSP00000315774.5:p.Gly192Val
ENST00000524810.5:c.507G>T
ENST00000526446.5:c.*630G>T	ENSP00000433645.1:n.*630G>T
ENST00000528492.1:c.137G>T	ENSP00000432848.1:p.Gly46Val
ENST00000531282.1:n.427G>T
NM_002496.3:c.575G>T	NP_002487.1:p.Gly192Val
XM_005274013.1:c.575G>T	XP_005274070.1:p.Gly192Val
XM_005274014.1:c.575G>T	XP_005274071.1:p.Gly192Val
XM_005274015.1:c.455G>T	XP_005274072.1:p.Gly152Val
XM_011545053.1:c.575G>T	XP_011543355.1:p.Gly192Val
NM_002496.4:c.575G>T MANE Select	NP_002487.1:p.Gly192Val