Canonical Allele Identifier: CA475513988

Gene: NDUFS8

Linked Data

• COSMIC: COSM1356482
• MyVariant Identifiers: chr11:g.67800439C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032972C>T , CM000673.2:g.68032972C>T	GRCh38
NC_000011.9:g.67800439C>T , CM000673.1:g.67800439C>T	GRCh37
NC_000011.8:g.67557015C>T	NCBI36
NG_017040.1:g.7356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.159C>T MANE Select	ENSP00000315774.5:p.Asp53=
ENST00000313468.9:c.159C>T	ENSP00000315774.5:p.Asp53=
ENST00000432321.6:n.276C>T
ENST00000453471.6:c.159C>T	ENSP00000403972.2:p.Asp53=
ENST00000525419.5:c.105C>T	ENSP00000433521.1:p.Asp35=
ENST00000525628.1:c.159C>T	ENSP00000432968.1:p.Asp53=
ENST00000526339.5:c.159C>T	ENSP00000436287.1:p.Asp53=
ENST00000526446.5:c.*214C>T	ENSP00000433645.1:n.*214C>T
ENST00000528492.1:c.-67+2239C>T	ENSP00000432848.1:n.-67+2239C>T
ENST00000529645.1:c.337C>T	ENSP00000431293.1:n.337C>T
ENST00000531228.1:c.*1C>T	ENSP00000433054.1:n.*1C>T
ENST00000532399.1:n.766C>T
NM_002496.3:c.159C>T	NP_002487.1:p.Asp53=
XM_005274013.1:c.159C>T	XP_005274070.1:p.Asp53=
XM_005274014.1:c.159C>T	XP_005274071.1:p.Asp53=
XM_005274015.1:c.39C>T	XP_005274072.1:p.Asp13=
XM_011545053.1:c.159C>T	XP_011543355.1:p.Asp53=
NM_002496.4:c.159C>T MANE Select	NP_002487.1:p.Asp53=