Canonical Allele Identifier: CA9450837
Gene: ITPKC HGNC NCBI

Linked Data

dbSNP Id: rs10420685

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40729215A>G , CM000681.2:g.40729215A>G GRCh38
NC_000019.9:g.41235120A>G , CM000681.1:g.41235120A>G GRCh37
NC_000019.8:g.45926960A>G NCBI36
NG_012970.1:g.17113A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699488.1:c.1156-3945A>G ENSP00000514399.1:n.1156-3945A>G
ENST00000699489.1:c.1269A>G ENSP00000514400.1:p.Ala423=
ENST00000699490.1:c.1269A>G ENSP00000514401.1:p.Ala423=
ENST00000263370.3:c.1269A>G MANE Select ENSP00000263370.1:p.Ala423=
ENST00000263370.2:c.1269A>G ENSP00000263370.1:p.Ala423=
NM_025194.2:c.1269A>G NP_079470.1:p.Ala423=
XM_006723404.1:c.1269A>G XP_006723467.1:p.Ala423=
XR_243961.1:n.1425A>G
XM_017027324.2:c.486A>G XP_016882813.1:p.Ala162=
NM_025194.3:c.1269A>G MANE Select NP_079470.1:p.Ala423=