Canonical Allele Identifier: CA381599023

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800403G>A (hg19) ; chr11:g.68032936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032936G>A , CM000673.2:g.68032936G>A	GRCh38
NC_000011.9:g.67800403G>A , CM000673.1:g.67800403G>A	GRCh37
NC_000011.8:g.67556979G>A	NCBI36
NG_017040.1:g.7320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.123G>A MANE Select	ENSP00000315774.5:p.Met41Ile
ENST00000313468.9:c.123G>A	ENSP00000315774.5:p.Met41Ile
ENST00000432321.6:n.240G>A
ENST00000453471.6:c.123G>A	ENSP00000403972.2:p.Met41Ile
ENST00000525419.5:c.69G>A	ENSP00000433521.1:p.Met23Ile
ENST00000525628.1:c.123G>A	ENSP00000432968.1:p.Met41Ile
ENST00000526339.5:c.123G>A	ENSP00000436287.1:p.Met41Ile
ENST00000526446.5:c.*178G>A	ENSP00000433645.1:n.*178G>A
ENST00000528492.1:c.-67+2203G>A	ENSP00000432848.1:n.-67+2203G>A
ENST00000529645.1:c.301G>A	ENSP00000431293.1:n.301G>A
ENST00000531228.1:c.178G>A	ENSP00000433054.1:p.Ala60Thr
ENST00000532399.1:n.730G>A
NM_002496.3:c.123G>A	NP_002487.1:p.Met41Ile
XM_005274013.1:c.123G>A	XP_005274070.1:p.Met41Ile
XM_005274014.1:c.123G>A	XP_005274071.1:p.Met41Ile
XM_005274015.1:c.3G>A	XP_005274072.1:p.Met1Ile
XM_011545053.1:c.123G>A	XP_011543355.1:p.Met41Ile
NM_002496.4:c.123G>A MANE Select	NP_002487.1:p.Met41Ile