Canonical Allele Identifier: CA7680594
Community Standard Title: NM_005530.3(IDH3A):c.524C>T (p.Ala175Val)
Gene: IDH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78162280C>T , CM000677.2:g.78162280C>T GRCh38
NC_000015.9:g.78454622C>T , CM000677.1:g.78454622C>T GRCh37
NC_000015.8:g.76241677C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005530.3:c.524C>T MANE Select NP_005521.1:p.Ala175Val
ENST00000299518.7:c.524C>T MANE Select ENSP00000299518.2:p.Ala175Val
NM_005530.2:c.524C>T NP_005521.1:p.Ala175Val
ENST00000299518.6:c.524C>T ENSP00000299518.2:p.Ala175Val
ENST00000558509.5:c.*226C>T ENSP00000453992.1:n.*226C>T
ENST00000558535.1:n.472C>T
ENST00000558554.5:c.419C>T ENSP00000453084.1:p.Ala140Val
ENST00000558602.5:n.1059C>T
ENST00000558933.5:c.*226C>T ENSP00000452620.1:n.*226C>T
ENST00000559205.1:c.28-3870C>T ENSP00000453989.1:n.28-3870C>T
ENST00000559803.5:c.*226C>T ENSP00000453338.1:n.*226C>T
ENST00000559881.5:c.374C>T ENSP00000453222.1:p.Ala125Val
ENST00000559889.5:n.1215C>T
ENST00000560667.5:c.*665C>T ENSP00000453033.1:n.*665C>T
ENST00000561279.5:c.440C>T ENSP00000453747.1:p.Ala147Val
XM_005254334.1:c.374C>T XP_005254391.1:p.Ala125Val
XM_005254336.1:c.197C>T XP_005254393.1:p.Ala66Val
XM_005254336.3:c.197C>T XP_005254393.1:p.Ala66Val
XM_005254337.1:c.197C>T XP_005254394.1:p.Ala66Val
XM_024449911.1:c.374C>T XP_024305679.1:p.Ala125Val
XM_024449912.1:c.197C>T XP_024305680.1:p.Ala66Val