Canonical Allele Identifier: CA349703759

Gene: PDE11A

Linked Data

• MyVariant Identifiers: chr2:g.178879061C>A (hg19) ; chr2:g.178014334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178014334C>A , CM000664.2:g.178014334C>A	GRCh38
NC_000002.11:g.178879061C>A , CM000664.1:g.178879061C>A	GRCh37
NC_000002.10:g.178587307C>A	NCBI36
NG_012168.1:g.99006G>T
NG_012168.2:g.99006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286063.11:c.1039G>T MANE Select	ENSP00000286063.5:p.Glu347Ter
ENST00000286063.10:c.1039G>T	ENSP00000286063.5:p.Glu347Ter
ENST00000358450.8:c.289G>T	ENSP00000351232.4:p.Glu97Ter
NM_001077197.1:c.289G>T	NP_001070665.1:p.Glu97Ter
NM_016953.3:c.1039G>T	NP_058649.3:p.Glu347Ter
NM_016953.4:c.1039G>T MANE Select	NP_058649.3:p.Glu347Ter
NM_001077197.2:c.289G>T	NP_001070665.1:p.Glu97Ter