Canonical Allele Identifier: CA430205409
Gene: PDE11A HGNC NCBI

Linked Data

dbSNP Id: rs2086307311
MyVariant Identifiers: chr2:g.178879041T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178014314T>C , CM000664.2:g.178014314T>C GRCh38
NC_000002.11:g.178879041T>C , CM000664.1:g.178879041T>C GRCh37
NC_000002.10:g.178587287T>C NCBI36
NG_012168.1:g.99026A>G
NG_012168.2:g.99026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286063.11:c.1059A>G MANE Select ENSP00000286063.5:p.Glu353=
ENST00000286063.10:c.1059A>G ENSP00000286063.5:p.Glu353=
ENST00000358450.8:c.309A>G ENSP00000351232.4:p.Glu103=
NM_001077197.1:c.309A>G NP_001070665.1:p.Glu103=
NM_016953.3:c.1059A>G NP_058649.3:p.Glu353=
NM_016953.4:c.1059A>G MANE Select NP_058649.3:p.Glu353=
NM_001077197.2:c.309A>G NP_001070665.1:p.Glu103=