Canonical Allele Identifier: CA67049923

Gene: INPP5D PDE12

Linked Data

• dbSNP Id: rs929146063
• gnomAD v2: 2-234068387-A-C
• gnomAD v3: 2-233159741-A-C
• gnomAD v4: 2-233159741-A-C
• MyVariant Identifiers: chr2:g.234068387A>C (hg19) ; chr2:g.233159741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233159741A>C , CM000664.2:g.233159741A>C	GRCh38
NC_000002.11:g.234068387A>C , CM000664.1:g.234068387A>C	GRCh37
NC_000002.10:g.233732437A>C	NCBI36
NG_033988.1:g.104775A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445964.6:c.1137+1322A>C (INPP5D) MANE Select	ENSP00000405338.2:n.1137+1322A>C
ENST00000359570.9:c.1134+1322A>C (INPP5D)	ENSP00000352575.7:n.1134+1322A>C
ENST00000445964.5:c.1137+1322A>C (INPP5D)	ENSP00000405338.2:n.1137+1322A>C
NM_001017915.2:c.1137+1322A>C (PDE12)	NP_001017915.1:n.1137+1322A>C
NM_005541.4:c.1134+1322A>C (PDE12)	NP_005532.2:n.1134+1322A>C
XM_011511128.1:c.1137+1322A>C (PDE12)	XP_011509430.1:n.1137+1322A>C
XM_011511129.1:c.357+1322A>C (PDE12)	XP_011509431.1:n.357+1322A>C
XM_017004004.1:c.-401+1322A>C (PDE12)	XP_016859493.1:n.-401+1322A>C
NM_001017915.3:c.1137+1322A>C (PDE12) MANE Select	NP_001017915.1:n.1137+1322A>C
NM_005541.5:c.1134+1322A>C (PDE12)	NP_005532.2:n.1134+1322A>C