Canonical Allele Identifier: CA2336123579
Gene: ITPKC HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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