Canonical Allele Identifier: CA1424051

Gene: ITPKB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226736500T>G , CM000663.2:g.226736500T>G	GRCh38
NC_000001.10:g.226924201T>G , CM000663.1:g.226924201T>G	GRCh37
NC_000001.9:g.224990824T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002221.4:c.959A>C MANE Select	NP_002212.3:p.Asp320Ala
ENST00000429204.6:c.959A>C MANE Select	ENSP00000411152.1:p.Asp320Ala
NM_001388404.1:c.959A>C	NP_001375333.1:p.Asp320Ala
NM_002221.3:c.959A>C	NP_002212.3:p.Asp320Ala
ENST00000272117.7:c.959A>C	ENSP00000272117.3:p.Asp320Ala
ENST00000272117.8:c.959A>C	ENSP00000272117.3:p.Asp320Ala
ENST00000366784.1:c.959A>C	ENSP00000355748.1:p.Asp320Ala
ENST00000429204.5:c.959A>C	ENSP00000411152.1:p.Asp320Ala
XM_005273120.1:c.959A>C	XP_005273177.1:p.Asp320Ala
XM_005273120.3:c.959A>C	XP_005273177.1:p.Asp320Ala
XM_017001211.2:c.959A>C	XP_016856700.1:p.Asp320Ala