Canonical Allele Identifier: CA393545380

Gene: IDH3A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78163717T>C , CM000677.2:g.78163717T>C	GRCh38
NC_000015.9:g.78456059T>C , CM000677.1:g.78456059T>C	GRCh37
NC_000015.8:g.76243114T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005530.3:c.716T>C MANE Select	NP_005521.1:p.Met239Thr
ENST00000299518.7:c.716T>C MANE Select	ENSP00000299518.2:p.Met239Thr
NM_005530.2:c.716T>C	NP_005521.1:p.Met239Thr
ENST00000299518.6:c.716T>C	ENSP00000299518.2:p.Met239Thr
ENST00000558535.1:n.664T>C
ENST00000558554.5:c.611T>C	ENSP00000453084.1:p.Met204Thr
ENST00000558602.5:n.1251T>C
ENST00000558933.5:c.*418T>C	ENSP00000452620.1:n.*418T>C
ENST00000559205.1:c.28-2433T>C	ENSP00000453989.1:n.28-2433T>C
ENST00000559803.5:c.*455T>C	ENSP00000453338.1:n.*455T>C
ENST00000559889.5:n.1407T>C
ENST00000560667.5:c.*857T>C	ENSP00000453033.1:n.*857T>C
ENST00000561366.1:c.2T>C	ENSP00000453795.1:p.Met1Thr
XM_005254334.1:c.566T>C	XP_005254391.1:p.Met189Thr
XM_005254336.1:c.389T>C	XP_005254393.1:p.Met130Thr
XM_005254336.3:c.389T>C	XP_005254393.1:p.Met130Thr
XM_005254337.1:c.389T>C	XP_005254394.1:p.Met130Thr
XM_024449911.1:c.566T>C	XP_024305679.1:p.Met189Thr
XM_024449912.1:c.389T>C	XP_024305680.1:p.Met130Thr