Canonical Allele Identifier: CA381599219

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800447C>A (hg19) ; chr11:g.68032980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68032980C>A , CM000673.2:g.68032980C>A	GRCh38
NC_000011.9:g.67800447C>A , CM000673.1:g.67800447C>A	GRCh37
NC_000011.8:g.67557023C>A	NCBI36
NG_017040.1:g.7364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.167C>A MANE Select	ENSP00000315774.5:p.Ala56Asp
ENST00000313468.9:c.167C>A	ENSP00000315774.5:p.Ala56Asp
ENST00000432321.6:n.284C>A
ENST00000453471.6:c.167C>A	ENSP00000403972.2:p.Ala56Asp
ENST00000525419.5:c.113C>A	ENSP00000433521.1:p.Ala38Asp
ENST00000525628.1:c.167C>A	ENSP00000432968.1:p.Ala56Asp
ENST00000526339.5:c.167C>A	ENSP00000436287.1:p.Ala56Asp
ENST00000526446.5:c.*222C>A	ENSP00000433645.1:n.*222C>A
ENST00000528492.1:c.-67+2247C>A	ENSP00000432848.1:n.-67+2247C>A
ENST00000529645.1:c.345C>A	ENSP00000431293.1:n.345C>A
ENST00000531228.1:c.*9C>A	ENSP00000433054.1:n.*9C>A
ENST00000532399.1:n.774C>A
NM_002496.3:c.167C>A	NP_002487.1:p.Ala56Asp
XM_005274013.1:c.167C>A	XP_005274070.1:p.Ala56Asp
XM_005274014.1:c.167C>A	XP_005274071.1:p.Ala56Asp
XM_005274015.1:c.47C>A	XP_005274072.1:p.Ala16Asp
XM_011545053.1:c.167C>A	XP_011543355.1:p.Ala56Asp
NM_002496.4:c.167C>A MANE Select	NP_002487.1:p.Ala56Asp