Canonical Allele Identifier: CA7680716
Community Standard Title: NM_005530.3(IDH3A):c.911C>A (p.Pro304His)
Gene: IDH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78166196C>A , CM000677.2:g.78166196C>A GRCh38
NC_000015.9:g.78458538C>A , CM000677.1:g.78458538C>A GRCh37
NC_000015.8:g.76245593C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005530.3:c.911C>A MANE Select NP_005521.1:p.Pro304His
ENST00000299518.7:c.911C>A MANE Select ENSP00000299518.2:p.Pro304His
NM_005530.2:c.911C>A NP_005521.1:p.Pro304His
ENST00000299518.6:c.911C>A ENSP00000299518.2:p.Pro304His
ENST00000558016.1:n.92C>A
ENST00000558535.1:n.859C>A
ENST00000558554.5:c.806C>A ENSP00000453084.1:p.Pro269His
ENST00000558602.5:n.1361C>A
ENST00000558933.5:c.*613C>A ENSP00000452620.1:n.*613C>A
ENST00000559205.1:c.74C>A ENSP00000453989.1:p.Pro25His
ENST00000559803.5:c.*650C>A ENSP00000453338.1:n.*650C>A
ENST00000559889.5:n.1602C>A
ENST00000560667.5:c.*1052C>A ENSP00000453033.1:n.*1052C>A
ENST00000561366.1:c.112C>A ENSP00000453795.1:p.Pro38Thr
XM_005254334.1:c.761C>A XP_005254391.1:p.Pro254His
XM_005254336.1:c.584C>A XP_005254393.1:p.Pro195His
XM_005254336.3:c.584C>A XP_005254393.1:p.Pro195His
XM_005254337.1:c.584C>A XP_005254394.1:p.Pro195His
XM_024449911.1:c.761C>A XP_024305679.1:p.Pro254His
XM_024449912.1:c.584C>A XP_024305680.1:p.Pro195His