Canonical Allele Identifier: CA10945413
Gene: ITPKB HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1151804

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226636516C>T , CM000663.2:g.226636516C>T GRCh38
NC_000001.10:g.226824217C>T , CM000663.1:g.226824217C>T GRCh37
NC_000001.9:g.224890840C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_002221.3:c.2625+1163G>A VV NP_002212.3:p.=
ENST00000272117.7:n.2625+1163G>A ENSP00000272117.3:p.=
ENST00000429204.5:c.2625+1163G>A ENSP00000411152.1:p.=