Canonical Allele Identifier: CA1982139

Gene: PDE11A

Linked Data

• dbSNP Id: rs757235336
• ExAC: 2:178879038 A / T
• gnomAD v2: 2-178879038-A-T
• gnomAD v4: 2-178014311-A-T
• MyVariant Identifiers: chr2:g.178879038A>T (hg19) ; chr2:g.178014311A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178014311A>T , CM000664.2:g.178014311A>T	GRCh38
NC_000002.11:g.178879038A>T , CM000664.1:g.178879038A>T	GRCh37
NC_000002.10:g.178587284A>T	NCBI36
NG_012168.1:g.99029T>A
NG_012168.2:g.99029T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286063.11:c.1062T>A MANE Select	ENSP00000286063.5:p.Asp354Glu
ENST00000286063.10:c.1062T>A	ENSP00000286063.5:p.Asp354Glu
ENST00000358450.8:c.312T>A	ENSP00000351232.4:p.Asp104Glu
NM_001077197.1:c.312T>A	NP_001070665.1:p.Asp104Glu
NM_016953.3:c.1062T>A	NP_058649.3:p.Asp354Glu
NM_016953.4:c.1062T>A MANE Select	NP_058649.3:p.Asp354Glu
NM_001077197.2:c.312T>A	NP_001070665.1:p.Asp104Glu