Canonical Allele Identifier: CA1980446527

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033003C= , CM000673.2:g.68033003C=	GRCh38
NC_000011.9:g.67800470C= , CM000673.1:g.67800470C=	GRCh37
NC_000011.8:g.67557046C=	NCBI36
NG_017040.1:g.7387C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.190C= MANE Select	ENSP00000315774.5:p.Leu64=
ENST00000313468.9:c.190C=	ENSP00000315774.5:p.Leu64=
ENST00000432321.6:n.307C=
ENST00000453471.6:c.190C=	ENSP00000403972.2:p.Leu64=
ENST00000525419.5:c.136C=	ENSP00000433521.1:p.Leu46=
ENST00000525628.1:c.190C=	ENSP00000432968.1:p.Leu64=
ENST00000526339.5:c.190C=	ENSP00000436287.1:p.Leu64=
ENST00000526446.5:c.*245C=	ENSP00000433645.1:n.*245C=
ENST00000528492.1:c.-67+2270C=	ENSP00000432848.1:n.-67+2270C=
ENST00000529645.1:c.368C=	ENSP00000431293.1:n.368C=
ENST00000531228.1:c.*32C=	ENSP00000433054.1:n.*32C=
ENST00000532399.1:n.797C=
NM_002496.3:c.190C=	NP_002487.1:p.Leu64=
XM_005274013.1:c.190C=	XP_005274070.1:p.Leu64=
XM_005274014.1:c.190C=	XP_005274071.1:p.Leu64=
XM_005274015.1:c.70C=	XP_005274072.1:p.Leu24=
XM_011545053.1:c.190C=	XP_011543355.1:p.Leu64=
NM_002496.4:c.190C= MANE Select	NP_002487.1:p.Leu64=