Canonical Allele Identifier: CA6146573

Gene: NDUFS8

Linked Data

• dbSNP Id: rs759323614
• ExAC: 11:67804021 G / T
• gnomAD v2: 11-67804021-G-T
• MyVariant Identifiers: chr11:g.67804021G>T (hg19) ; chr11:g.68036554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036554G>T , CM000673.2:g.68036554G>T	GRCh38
NC_000011.9:g.67804021G>T , CM000673.1:g.67804021G>T	GRCh37
NC_000011.8:g.67560597G>T	NCBI36
NG_007878.1:g.2539G>T , LRG_115:g.2539G>T
NG_017040.1:g.10938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.594G>T MANE Select	ENSP00000315774.5:p.Glu198Asp
ENST00000313468.9:c.594G>T	ENSP00000315774.5:p.Glu198Asp
ENST00000524810.5:c.526G>T
ENST00000528492.1:c.156G>T	ENSP00000432848.1:p.Glu52Asp
ENST00000531282.1:n.446G>T
NM_002496.3:c.594G>T	NP_002487.1:p.Glu198Asp
XM_005274013.1:c.594G>T	XP_005274070.1:p.Glu198Asp
XM_005274014.1:c.594G>T	XP_005274071.1:p.Glu198Asp
XM_005274015.1:c.474G>T	XP_005274072.1:p.Glu158Asp
XM_011545053.1:c.594G>T	XP_011543355.1:p.Glu198Asp
NM_002496.4:c.594G>T MANE Select	NP_002487.1:p.Glu198Asp