Canonical Allele Identifier: CA1424162

Gene: ITPKB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226736941C>T , CM000663.2:g.226736941C>T	GRCh38
NC_000001.10:g.226924642C>T , CM000663.1:g.226924642C>T	GRCh37
NC_000001.9:g.224991265C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002221.4:c.518G>A MANE Select	NP_002212.3:p.Arg173His
ENST00000429204.6:c.518G>A MANE Select	ENSP00000411152.1:p.Arg173His
NM_001388404.1:c.518G>A	NP_001375333.1:p.Arg173His
NM_002221.3:c.518G>A	NP_002212.3:p.Arg173His
ENST00000272117.7:c.518G>A	ENSP00000272117.3:p.Arg173His
ENST00000272117.8:c.518G>A	ENSP00000272117.3:p.Arg173His
ENST00000366784.1:c.518G>A	ENSP00000355748.1:p.Arg173His
ENST00000429204.5:c.518G>A	ENSP00000411152.1:p.Arg173His
XM_005273120.1:c.518G>A	XP_005273177.1:p.Arg173His
XM_005273120.3:c.518G>A	XP_005273177.1:p.Arg173His
XM_017001211.2:c.518G>A	XP_016856700.1:p.Arg173His