Canonical Allele Identifier: CA381570328

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804026C>T (hg19) ; chr11:g.68036559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036559C>T , CM000673.2:g.68036559C>T	GRCh38
NC_000011.9:g.67804026C>T , CM000673.1:g.67804026C>T	GRCh37
NC_000011.8:g.67560602C>T	NCBI36
NG_007878.1:g.2544C>T , LRG_115:g.2544C>T
NG_017040.1:g.10943C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.599C>T MANE Select	ENSP00000315774.5:p.Ala200Val
ENST00000313468.9:c.599C>T	ENSP00000315774.5:p.Ala200Val
ENST00000524810.5:c.531C>T
ENST00000528492.1:c.161C>T	ENSP00000432848.1:p.Ala54Val
ENST00000531282.1:n.451C>T
NM_002496.3:c.599C>T	NP_002487.1:p.Ala200Val
XM_005274013.1:c.599C>T	XP_005274070.1:p.Ala200Val
XM_005274014.1:c.599C>T	XP_005274071.1:p.Ala200Val
XM_005274015.1:c.479C>T	XP_005274072.1:p.Ala160Val
XM_011545053.1:c.599C>T	XP_011543355.1:p.Ala200Val
NM_002496.4:c.599C>T MANE Select	NP_002487.1:p.Ala200Val