Canonical Allele Identifier: CA393544827
Community Standard Title: NM_005530.3(IDH3A):c.612G>C (p.Met204Ile)
Gene: IDH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78163507G>C , CM000677.2:g.78163507G>C GRCh38
NC_000015.9:g.78455849G>C , CM000677.1:g.78455849G>C GRCh37
NC_000015.8:g.76242904G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005530.3:c.612G>C MANE Select NP_005521.1:p.Met204Ile
ENST00000299518.7:c.612G>C MANE Select ENSP00000299518.2:p.Met204Ile
NM_005530.2:c.612G>C NP_005521.1:p.Met204Ile
ENST00000299518.6:c.612G>C ENSP00000299518.2:p.Met204Ile
ENST00000558509.5:c.*351G>C ENSP00000453992.1:n.*351G>C
ENST00000558535.1:n.560G>C
ENST00000558554.5:c.507G>C ENSP00000453084.1:p.Met169Ile
ENST00000558602.5:n.1147G>C
ENST00000558933.5:c.*314G>C ENSP00000452620.1:n.*314G>C
ENST00000559205.1:c.28-2643G>C ENSP00000453989.1:n.28-2643G>C
ENST00000559803.5:c.*351G>C ENSP00000453338.1:n.*351G>C
ENST00000559889.5:n.1303G>C
ENST00000560667.5:c.*753G>C ENSP00000453033.1:n.*753G>C
XM_005254334.1:c.462G>C XP_005254391.1:p.Met154Ile
XM_005254336.1:c.285G>C XP_005254393.1:p.Met95Ile
XM_005254336.3:c.285G>C XP_005254393.1:p.Met95Ile
XM_005254337.1:c.285G>C XP_005254394.1:p.Met95Ile
XM_024449911.1:c.462G>C XP_024305679.1:p.Met154Ile
XM_024449912.1:c.285G>C XP_024305680.1:p.Met95Ile