Canonical Allele Identifier: CA14708701

Gene: ITPKC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40738982G>A , CM000681.2:g.40738982G>A	GRCh38
NC_000019.9:g.41244887G>A , CM000681.1:g.41244887G>A	GRCh37
NC_000019.8:g.45936727G>A	NCBI36
NG_012970.1:g.26880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699488.1:c.1535-375G>A	ENSP00000514399.1:n.1535-375G>A
ENST00000699489.1:c.1777-375G>A	ENSP00000514400.1:n.1777-375G>A
ENST00000699490.1:c.1849-375G>A	ENSP00000514401.1:n.1849-375G>A
ENST00000263370.3:c.1849-375G>A MANE Select	ENSP00000263370.1:n.1849-375G>A
ENST00000263370.2:c.1849-375G>A	ENSP00000263370.1:n.1849-375G>A
ENST00000597003.1:c.270-375G>A	ENSP00000472655.1:n.270-375G>A
NM_025194.2:c.1849-375G>A	NP_079470.1:n.1849-375G>A
XM_006723404.1:c.1849-375G>A	XP_006723467.1:n.1849-375G>A
XR_243961.1:n.1800-375G>A
XM_017027324.2:c.1066-375G>A	XP_016882813.1:n.1066-375G>A
NM_025194.3:c.1849-375G>A MANE Select	NP_079470.1:n.1849-375G>A