Canonical Allele Identifier: CA2839701319

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033059G>T , CM000673.2:g.68033059G>T	GRCh38
NC_000011.9:g.67800526G>T , CM000673.1:g.67800526G>T	GRCh37
NC_000011.8:g.67557102G>T	NCBI36
NG_017040.1:g.7443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.199+47G>T MANE Select	ENSP00000315774.5:n.199+47G>T
ENST00000313468.9:c.199+47G>T	ENSP00000315774.5:n.199+47G>T
ENST00000432321.6:n.316+47G>T
ENST00000453471.6:c.199+47G>T	ENSP00000403972.2:n.199+47G>T
ENST00000525419.5:c.145+47G>T	ENSP00000433521.1:n.145+47G>T
ENST00000525628.1:c.199+47G>T	ENSP00000432968.1:n.199+47G>T
ENST00000526339.5:c.199+47G>T	ENSP00000436287.1:n.199+47G>T
ENST00000526446.5:c.*254+47G>T	ENSP00000433645.1:n.*254+47G>T
ENST00000528492.1:c.-67+2326G>T	ENSP00000432848.1:n.-67+2326G>T
ENST00000529645.1:c.377+47G>T	ENSP00000431293.1:n.377+47G>T
ENST00000531228.1:c.*41+47G>T	ENSP00000433054.1:n.*41+47G>T
ENST00000532399.1:n.853G>T
NM_002496.3:c.199+47G>T	NP_002487.1:n.199+47G>T
XM_005274013.1:c.199+47G>T	XP_005274070.1:n.199+47G>T
XM_005274014.1:c.199+47G>T	XP_005274071.1:n.199+47G>T
XM_005274015.1:c.79+47G>T	XP_005274072.1:n.79+47G>T
XM_011545053.1:c.199+47G>T	XP_011543355.1:n.199+47G>T
NM_002496.4:c.199+47G>T MANE Select	NP_002487.1:n.199+47G>T