Canonical Allele Identifier: CA381569773

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803969T>G (hg19) ; chr11:g.68036502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036502T>G , CM000673.2:g.68036502T>G	GRCh38
NC_000011.9:g.67803969T>G , CM000673.1:g.67803969T>G	GRCh37
NC_000011.8:g.67560545T>G	NCBI36
NG_007878.1:g.2487T>G , LRG_115:g.2487T>G
NG_017040.1:g.10886T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.542T>G MANE Select	ENSP00000315774.5:p.Leu181Arg
ENST00000313468.9:c.542T>G	ENSP00000315774.5:p.Leu181Arg
ENST00000524810.5:c.474T>G
ENST00000526339.5:c.542T>G	ENSP00000436287.1:p.Leu181Arg
ENST00000526446.5:c.*597T>G	ENSP00000433645.1:n.*597T>G
ENST00000528492.1:c.104T>G	ENSP00000432848.1:p.Leu35Arg
ENST00000531282.1:n.394T>G
NM_002496.3:c.542T>G	NP_002487.1:p.Leu181Arg
XM_005274013.1:c.542T>G	XP_005274070.1:p.Leu181Arg
XM_005274014.1:c.542T>G	XP_005274071.1:p.Leu181Arg
XM_005274015.1:c.422T>G	XP_005274072.1:p.Leu141Arg
XM_011545053.1:c.542T>G	XP_011543355.1:p.Leu181Arg
NM_002496.4:c.542T>G MANE Select	NP_002487.1:p.Leu181Arg