Canonical Allele Identifier: CA10652425
Gene: IDH3B HGNC NCBI

Linked Data

ClinVar Variation Id: 338016
dbSNP Id: rs886056569
gnomAD v4: 20-2659582-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2659582A>G , CM000682.2:g.2659582A>G GRCh38
NC_000020.10:g.2640228A>G , CM000682.1:g.2640228A>G GRCh37
NC_000020.9:g.2588228A>G NCBI36
NG_012149.1:g.9616T>C
NG_032136.1:g.12051A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380843.9:c.1014T>C MANE Select ENSP00000370223.4:p.Leu338=
ENST00000380843.8:c.1014T>C ENSP00000370223.4:p.Leu338=
ENST00000380851.9:c.1014T>C ENSP00000370232.5:p.Leu338=
ENST00000466494.6:c.292T>C
ENST00000466999.1:n.222T>C
ENST00000474315.5:c.1014T>C ENSP00000482773.1:p.Leu338=
ENST00000477689.2:c.255T>C
ENST00000488299.5:n.1120T>C
ENST00000492240.5:n.579T>C
ENST00000613370.1:c.1014T>C ENSP00000484922.1:p.Leu338=
NM_001258384.1:c.1014T>C NP_001245313.1:p.Leu338=
NM_006899.3:c.1014T>C NP_008830.2:p.Leu338=
NM_174855.2:c.1014T>C NP_777280.1:p.Leu338=
XM_005260716.1:c.1014T>C XP_005260773.1:p.Leu338=
XR_937066.1:n.1042T>C
NM_001258384.2:c.1014T>C NP_001245313.1:p.Leu338=
NM_001330763.1:c.1014T>C NP_001317692.1:p.Leu338=
NM_006899.4:c.1014T>C NP_008830.2:p.Leu338=
NM_174855.3:c.1014T>C NP_777280.1:p.Leu338=
NR_136344.1:n.1049T>C
XR_001754265.1:n.1004T>C
XR_001754266.1:n.1004T>C
XR_001754267.1:n.1004T>C
NM_006899.5:c.1014T>C MANE Select NP_008830.2:p.Leu338=
NM_001330763.2:c.1014T>C NP_001317692.1:p.Leu338=
NM_174855.4:c.1014T>C NP_777280.1:p.Leu338=
NR_136344.2:n.1042T>C
NM_001258384.3:c.1014T>C NP_001245313.1:p.Leu338=