Canonical Allele Identifier: CA381570281

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67804023T>A (hg19) ; chr11:g.68036556T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036556T>A , CM000673.2:g.68036556T>A	GRCh38
NC_000011.9:g.67804023T>A , CM000673.1:g.67804023T>A	GRCh37
NC_000011.8:g.67560599T>A	NCBI36
NG_007878.1:g.2541T>A , LRG_115:g.2541T>A
NG_017040.1:g.10940T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.596T>A MANE Select	ENSP00000315774.5:p.Ile199Asn
ENST00000313468.9:c.596T>A	ENSP00000315774.5:p.Ile199Asn
ENST00000524810.5:c.528T>A
ENST00000528492.1:c.158T>A	ENSP00000432848.1:p.Ile53Asn
ENST00000531282.1:n.448T>A
NM_002496.3:c.596T>A	NP_002487.1:p.Ile199Asn
XM_005274013.1:c.596T>A	XP_005274070.1:p.Ile199Asn
XM_005274014.1:c.596T>A	XP_005274071.1:p.Ile199Asn
XM_005274015.1:c.476T>A	XP_005274072.1:p.Ile159Asn
XM_011545053.1:c.596T>A	XP_011543355.1:p.Ile199Asn
NM_002496.4:c.596T>A MANE Select	NP_002487.1:p.Ile199Asn