Canonical Allele Identifier: CA7680726

Gene: IDH3A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78166231C>T , CM000677.2:g.78166231C>T	GRCh38
NC_000015.9:g.78458573C>T , CM000677.1:g.78458573C>T	GRCh37
NC_000015.8:g.76245628C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005530.3:c.946C>T MANE Select	NP_005521.1:p.Arg316Cys
ENST00000299518.7:c.946C>T MANE Select	ENSP00000299518.2:p.Arg316Cys
NM_005530.2:c.946C>T	NP_005521.1:p.Arg316Cys
ENST00000299518.6:c.946C>T	ENSP00000299518.2:p.Arg316Cys
ENST00000558016.1:n.127C>T
ENST00000558535.1:n.894C>T
ENST00000558554.5:c.841C>T	ENSP00000453084.1:p.Arg281Cys
ENST00000558602.5:n.1396C>T
ENST00000559205.1:c.109C>T	ENSP00000453989.1:p.Arg37Cys
ENST00000559803.5:c.*685C>T	ENSP00000453338.1:n.*685C>T
ENST00000559889.5:n.1637C>T
ENST00000560667.5:c.*1087C>T	ENSP00000453033.1:n.*1087C>T
ENST00000561366.1:c.147C>T	ENSP00000453795.1:n.147C>T
XM_005254334.1:c.796C>T	XP_005254391.1:p.Arg266Cys
XM_005254336.1:c.619C>T	XP_005254393.1:p.Arg207Cys
XM_005254336.3:c.619C>T	XP_005254393.1:p.Arg207Cys
XM_005254337.1:c.619C>T	XP_005254394.1:p.Arg207Cys
XM_024449911.1:c.796C>T	XP_024305679.1:p.Arg266Cys
XM_024449912.1:c.619C>T	XP_024305680.1:p.Arg207Cys