Canonical Allele Identifier: CA381569448

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67803841T>A (hg19) ; chr11:g.68036374T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036374T>A , CM000673.2:g.68036374T>A	GRCh38
NC_000011.9:g.67803841T>A , CM000673.1:g.67803841T>A	GRCh37
NC_000011.8:g.67560417T>A	NCBI36
NG_007878.1:g.2359T>A , LRG_115:g.2359T>A
NG_017040.1:g.10758T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.494T>A MANE Select	ENSP00000315774.5:p.Ile165Asn
ENST00000313468.9:c.494T>A	ENSP00000315774.5:p.Ile165Asn
ENST00000524810.5:c.426T>A
ENST00000526339.5:c.494T>A	ENSP00000436287.1:p.Ile165Asn
ENST00000526446.5:c.*549T>A	ENSP00000433645.1:n.*549T>A
ENST00000528492.1:c.56T>A	ENSP00000432848.1:p.Ile19Asn
ENST00000531282.1:n.346T>A
NM_002496.3:c.494T>A	NP_002487.1:p.Ile165Asn
XM_005274013.1:c.494T>A	XP_005274070.1:p.Ile165Asn
XM_005274014.1:c.494T>A	XP_005274071.1:p.Ile165Asn
XM_005274015.1:c.374T>A	XP_005274072.1:p.Ile125Asn
XM_011545053.1:c.494T>A	XP_011543355.1:p.Ile165Asn
NM_002496.4:c.494T>A MANE Select	NP_002487.1:p.Ile165Asn