Canonical Allele Identifier: CA308473823

Gene: ITPKC

Linked Data

• dbSNP Id: rs2290692
• gnomAD v2: 19-41246378-G-A
• gnomAD v3: 19-40740473-G-A
• gnomAD v4: 19-40740473-G-A
• MyVariant Identifiers: chr19:g.41246378G>A (hg19) ; chr19:g.40740473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40740473G>A , CM000681.2:g.40740473G>A	GRCh38
NC_000019.9:g.41246378G>A , CM000681.1:g.41246378G>A	GRCh37
NC_000019.8:g.45938218G>A	NCBI36
NG_012970.1:g.28371G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699488.1:c.2651G>A	ENSP00000514399.1:n.2651G>A
ENST00000699489.1:c.2893G>A	ENSP00000514400.1:n.2893G>A
ENST00000699490.1:c.2457G>A	ENSP00000514401.1:n.2457G>A
ENST00000263370.3:c.*913G>A MANE Select	ENSP00000263370.1:n.*913G>A
ENST00000263370.2:c.*913G>A	ENSP00000263370.1:n.*913G>A
NM_025194.2:c.*913G>A	NP_079470.1:n.*913G>A
XM_006723404.1:c.*543G>A	XP_006723467.1:n.*543G>A
XR_243961.1:n.2916G>A
XM_017027324.2:c.2182G>A	XP_016882813.1:n.2182G>A
NM_025194.3:c.*913G>A MANE Select	NP_079470.1:n.*913G>A