Canonical Allele Identifier: CA381599872

Gene: NDUFS8

Linked Data

• dbSNP Id: rs998549961
• gnomAD v2: 11-67800659-G-T
• MyVariant Identifiers: chr11:g.67800659G>T (hg19) ; chr11:g.68033192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033192G>T , CM000673.2:g.68033192G>T	GRCh38
NC_000011.9:g.67800659G>T , CM000673.1:g.67800659G>T	GRCh37
NC_000011.8:g.67557235G>T	NCBI36
NG_017040.1:g.7576G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.281G>T MANE Select	ENSP00000315774.5:p.Arg94Leu
ENST00000313468.9:c.281G>T	ENSP00000315774.5:p.Arg94Leu
ENST00000432321.6:n.398G>T
ENST00000453471.6:c.281G>T	ENSP00000403972.2:p.Arg94Leu
ENST00000524810.5:c.52G>T
ENST00000525419.5:c.227G>T	ENSP00000433521.1:p.Arg76Leu
ENST00000525628.1:c.281G>T	ENSP00000432968.1:p.Arg94Leu
ENST00000526339.5:c.281G>T	ENSP00000436287.1:p.Arg94Leu
ENST00000526446.5:c.*336G>T	ENSP00000433645.1:n.*336G>T
ENST00000528492.1:c.-67+2459G>T	ENSP00000432848.1:n.-67+2459G>T
ENST00000529645.1:c.459G>T	ENSP00000431293.1:n.459G>T
ENST00000531228.1:c.*123G>T	ENSP00000433054.1:n.*123G>T
ENST00000532399.1:n.986G>T
NM_002496.3:c.281G>T	NP_002487.1:p.Arg94Leu
XM_005274013.1:c.281G>T	XP_005274070.1:p.Arg94Leu
XM_005274014.1:c.281G>T	XP_005274071.1:p.Arg94Leu
XM_005274015.1:c.161G>T	XP_005274072.1:p.Arg54Leu
XM_011545053.1:c.281G>T	XP_011543355.1:p.Arg94Leu
NM_002496.4:c.281G>T MANE Select	NP_002487.1:p.Arg94Leu