Canonical Allele Identifier: CA349703748

Gene: PDE11A

Linked Data

• MyVariant Identifiers: chr2:g.178879057C>A (hg19) ; chr2:g.178014330C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178014330C>A , CM000664.2:g.178014330C>A	GRCh38
NC_000002.11:g.178879057C>A , CM000664.1:g.178879057C>A	GRCh37
NC_000002.10:g.178587303C>A	NCBI36
NG_012168.1:g.99010G>T
NG_012168.2:g.99010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286063.11:c.1043G>T MANE Select	ENSP00000286063.5:p.Gly348Val
ENST00000286063.10:c.1043G>T	ENSP00000286063.5:p.Gly348Val
ENST00000358450.8:c.293G>T	ENSP00000351232.4:p.Gly98Val
NM_001077197.1:c.293G>T	NP_001070665.1:p.Gly98Val
NM_016953.3:c.1043G>T	NP_058649.3:p.Gly348Val
NM_016953.4:c.1043G>T MANE Select	NP_058649.3:p.Gly348Val
NM_001077197.2:c.293G>T	NP_001070665.1:p.Gly98Val