Canonical Allele Identifier: CA475442785

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803970G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036503G>A , CM000673.2:g.68036503G>A	GRCh38
NC_000011.9:g.67803970G>A , CM000673.1:g.67803970G>A	GRCh37
NC_000011.8:g.67560546G>A	NCBI36
NG_007878.1:g.2488G>A , LRG_115:g.2488G>A
NG_017040.1:g.10887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.543G>A MANE Select	ENSP00000315774.5:p.Leu181=
ENST00000313468.9:c.543G>A	ENSP00000315774.5:p.Leu181=
ENST00000524810.5:c.475G>A
ENST00000526339.5:c.543G>A	ENSP00000436287.1:p.Leu181=
ENST00000526446.5:c.*598G>A	ENSP00000433645.1:n.*598G>A
ENST00000528492.1:c.105G>A	ENSP00000432848.1:p.Leu35=
ENST00000531282.1:n.395G>A
NM_002496.3:c.543G>A	NP_002487.1:p.Leu181=
XM_005274013.1:c.543G>A	XP_005274070.1:p.Leu181=
XM_005274014.1:c.543G>A	XP_005274071.1:p.Leu181=
XM_005274015.1:c.423G>A	XP_005274072.1:p.Leu141=
XM_011545053.1:c.543G>A	XP_011543355.1:p.Leu181=
NM_002496.4:c.543G>A MANE Select	NP_002487.1:p.Leu181=