Canonical Allele Identifier: CA7680723
Community Standard Title: NM_005530.3(IDH3A):c.938T>C (p.Met313Thr)
Gene: IDH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78166223T>C , CM000677.2:g.78166223T>C GRCh38
NC_000015.9:g.78458565T>C , CM000677.1:g.78458565T>C GRCh37
NC_000015.8:g.76245620T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005530.3:c.938T>C MANE Select NP_005521.1:p.Met313Thr
ENST00000299518.7:c.938T>C MANE Select ENSP00000299518.2:p.Met313Thr
NM_005530.2:c.938T>C NP_005521.1:p.Met313Thr
ENST00000299518.6:c.938T>C ENSP00000299518.2:p.Met313Thr
ENST00000558016.1:n.119T>C
ENST00000558535.1:n.886T>C
ENST00000558554.5:c.833T>C ENSP00000453084.1:p.Met278Thr
ENST00000558602.5:n.1388T>C
ENST00000559205.1:c.101T>C ENSP00000453989.1:p.Met34Thr
ENST00000559803.5:c.*677T>C ENSP00000453338.1:n.*677T>C
ENST00000559889.5:n.1629T>C
ENST00000560667.5:c.*1079T>C ENSP00000453033.1:n.*1079T>C
ENST00000561366.1:c.139T>C ENSP00000453795.1:n.139T>C
XM_005254334.1:c.788T>C XP_005254391.1:p.Met263Thr
XM_005254336.1:c.611T>C XP_005254393.1:p.Met204Thr
XM_005254336.3:c.611T>C XP_005254393.1:p.Met204Thr
XM_005254337.1:c.611T>C XP_005254394.1:p.Met204Thr
XM_024449911.1:c.788T>C XP_024305679.1:p.Met263Thr
XM_024449912.1:c.611T>C XP_024305680.1:p.Met204Thr