Canonical Allele Identifier: CA381599822

Gene: NDUFS8

Linked Data

• MyVariant Identifiers: chr11:g.67800650T>A (hg19) ; chr11:g.68033183T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033183T>A , CM000673.2:g.68033183T>A	GRCh38
NC_000011.9:g.67800650T>A , CM000673.1:g.67800650T>A	GRCh37
NC_000011.8:g.67557226T>A	NCBI36
NG_017040.1:g.7567T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.272T>A MANE Select	ENSP00000315774.5:p.Leu91Gln
ENST00000313468.9:c.272T>A	ENSP00000315774.5:p.Leu91Gln
ENST00000432321.6:n.389T>A
ENST00000453471.6:c.272T>A	ENSP00000403972.2:p.Leu91Gln
ENST00000524810.5:c.43T>A
ENST00000525419.5:c.218T>A	ENSP00000433521.1:p.Leu73Gln
ENST00000525628.1:c.272T>A	ENSP00000432968.1:p.Leu91Gln
ENST00000526339.5:c.272T>A	ENSP00000436287.1:p.Leu91Gln
ENST00000526446.5:c.*327T>A	ENSP00000433645.1:n.*327T>A
ENST00000528492.1:c.-67+2450T>A	ENSP00000432848.1:n.-67+2450T>A
ENST00000529645.1:c.450T>A	ENSP00000431293.1:n.450T>A
ENST00000531228.1:c.*114T>A	ENSP00000433054.1:n.*114T>A
ENST00000532399.1:n.977T>A
NM_002496.3:c.272T>A	NP_002487.1:p.Leu91Gln
XM_005274013.1:c.272T>A	XP_005274070.1:p.Leu91Gln
XM_005274014.1:c.272T>A	XP_005274071.1:p.Leu91Gln
XM_005274015.1:c.152T>A	XP_005274072.1:p.Leu51Gln
XM_011545053.1:c.272T>A	XP_011543355.1:p.Leu91Gln
NM_002496.4:c.272T>A MANE Select	NP_002487.1:p.Leu91Gln