Canonical Allele Identifier: CA67049932

Gene: INPP5D PDE12

Linked Data

• dbSNP Id: rs911635496
• MyVariant Identifiers: chr2:g.233159766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233159766C>A , CM000664.2:g.233159766C>A	GRCh38
NC_000002.11:g.234068412C>A , CM000664.1:g.234068412C>A	GRCh37
NC_000002.10:g.233732462C>A	NCBI36
NG_033988.1:g.104800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445964.6:c.1137+1347C>A (INPP5D) MANE Select	ENSP00000405338.2:n.1137+1347C>A
ENST00000359570.9:c.1134+1347C>A (INPP5D)	ENSP00000352575.7:n.1134+1347C>A
ENST00000445964.5:c.1137+1347C>A (INPP5D)	ENSP00000405338.2:n.1137+1347C>A
NM_001017915.2:c.1137+1347C>A (PDE12)	NP_001017915.1:n.1137+1347C>A
NM_005541.4:c.1134+1347C>A (PDE12)	NP_005532.2:n.1134+1347C>A
XM_011511128.1:c.1137+1347C>A (PDE12)	XP_011509430.1:n.1137+1347C>A
XM_011511129.1:c.357+1347C>A (PDE12)	XP_011509431.1:n.357+1347C>A
XM_017004004.1:c.-401+1347C>A (PDE12)	XP_016859493.1:n.-401+1347C>A
NM_001017915.3:c.1137+1347C>A (PDE12) MANE Select	NP_001017915.1:n.1137+1347C>A
NM_005541.5:c.1134+1347C>A (PDE12)	NP_005532.2:n.1134+1347C>A