Canonical Allele Identifier: CA349703808

Gene: PDE11A

Linked Data

• gnomAD v4: 2-178014357-G-A
• MyVariant Identifiers: chr2:g.178879084G>A (hg19) ; chr2:g.178014357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178014357G>A , CM000664.2:g.178014357G>A	GRCh38
NC_000002.11:g.178879084G>A , CM000664.1:g.178879084G>A	GRCh37
NC_000002.10:g.178587330G>A	NCBI36
NG_012168.1:g.98983C>T
NG_012168.2:g.98983C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286063.11:c.1016C>T MANE Select	ENSP00000286063.5:p.Ala339Val
ENST00000286063.10:c.1016C>T	ENSP00000286063.5:p.Ala339Val
ENST00000358450.8:c.266C>T	ENSP00000351232.4:p.Ala89Val
NM_001077197.1:c.266C>T	NP_001070665.1:p.Ala89Val
NM_016953.3:c.1016C>T	NP_058649.3:p.Ala339Val
NM_016953.4:c.1016C>T MANE Select	NP_058649.3:p.Ala339Val
NM_001077197.2:c.266C>T	NP_001070665.1:p.Ala89Val