Canonical Allele Identifier: CA349703820

Gene: PDE11A

Linked Data

• dbSNP Id: rs1240572730
• gnomAD v2: 2-178879090-C-T
• gnomAD v4: 2-178014363-C-T
• MyVariant Identifiers: chr2:g.178879090C>T (hg19) ; chr2:g.178014363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178014363C>T , CM000664.2:g.178014363C>T	GRCh38
NC_000002.11:g.178879090C>T , CM000664.1:g.178879090C>T	GRCh37
NC_000002.10:g.178587336C>T	NCBI36
NG_012168.1:g.98977G>A
NG_012168.2:g.98977G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000286063.11:c.1010G>A MANE Select	ENSP00000286063.5:p.Gly337Asp
ENST00000286063.10:c.1010G>A	ENSP00000286063.5:p.Gly337Asp
ENST00000358450.8:c.260G>A	ENSP00000351232.4:p.Gly87Asp
NM_001077197.1:c.260G>A	NP_001070665.1:p.Gly87Asp
NM_016953.3:c.1010G>A	NP_058649.3:p.Gly337Asp
NM_016953.4:c.1010G>A MANE Select	NP_058649.3:p.Gly337Asp
NM_001077197.2:c.260G>A	NP_001070665.1:p.Gly87Asp