Canonical Allele Identifier: CA2336119111

Gene: ITPKC

Genomic Alleles

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

Transcript Alleles

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