Canonical Allele Identifier: CA2012641

Gene: PDE1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182201710T>C , CM000664.2:g.182201710T>C	GRCh38
NC_000002.11:g.183066437T>C , CM000664.1:g.183066437T>C	GRCh37
NC_000002.10:g.182774682T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351439.10:c.982A>G	ENSP00000309269.9:p.Asn328Asp
ENST00000409365.6:c.982A>G MANE Select	ENSP00000386767.1:p.Asn328Asp
ENST00000410103.2:c.1030A>G	ENSP00000387037.1:p.Asn344Asp
ENST00000435564.6:c.1030A>G	ENSP00000410309.1:p.Asn344Asp
ENST00000462938.6:c.*924A>G	ENSP00000512256.1:n.*924A>G
ENST00000482782.6:c.1030A>G	ENSP00000512257.1:p.Asn344Asp
ENST00000495511.2:c.1030A>G	ENSP00000512258.1:p.Asn344Asp
ENST00000351439.9:c.982A>G	ENSP00000309269.9:p.Asn328Asp
ENST00000358139.6:c.928A>G	ENSP00000350858.3:p.Asn310Asp
ENST00000409365.5:c.982A>G	ENSP00000386767.1:p.Asn328Asp
ENST00000410103.1:c.1030A>G	ENSP00000387037.1:p.Asn344Asp
ENST00000435564.5:c.1030A>G	ENSP00000410309.1:p.Asn344Asp
NM_001003683.2:c.1030A>G	NP_001003683.1:p.Asn344Asp
NM_001258312.1:c.1042A>G	NP_001245241.1:p.Asn348Asp
NM_001258313.1:c.982A>G	NP_001245242.1:p.Asn328Asp
NM_001258314.1:c.928A>G	NP_001245243.1:p.Asn310Asp
NM_005019.4:c.1030A>G	NP_005010.2:p.Asn344Asp
XM_011511323.1:c.1030A>G	XP_011509625.1:p.Asn344Asp
XM_011511324.1:c.1030A>G	XP_011509626.1:p.Asn344Asp
XM_011511325.1:c.982A>G	XP_011509627.1:p.Asn328Asp
XM_011511326.1:c.928A>G	XP_011509628.1:p.Asn310Asp
XR_922940.1:n.1040A>G
NM_001363871.1:c.982A>G	NP_001350800.1:p.Asn328Asp
XM_011511323.2:c.1030A>G	XP_011509625.1:p.Asn344Asp
XM_011511324.3:c.1030A>G	XP_011509626.1:p.Asn344Asp
XM_011511325.3:c.982A>G	XP_011509627.1:p.Asn328Asp
XM_011511326.2:c.928A>G	XP_011509628.1:p.Asn310Asp
XM_017004294.2:c.1030A>G	XP_016859783.1:p.Asn344Asp
XM_017004295.2:c.1030A>G	XP_016859784.1:p.Asn344Asp
XM_017004296.2:c.1030A>G	XP_016859785.1:p.Asn344Asp
XM_017004297.1:c.1030A>G	XP_016859786.1:p.Asn344Asp
XM_017004298.1:c.1030A>G	XP_016859787.1:p.Asn344Asp
XM_017004299.2:c.1030A>G	XP_016859788.1:p.Asn344Asp
XM_017004300.1:c.1030A>G	XP_016859789.1:p.Asn344Asp
XM_017004301.1:c.1030A>G	XP_016859790.1:p.Asn344Asp
XM_024452959.1:c.1030A>G	XP_024308727.1:p.Asn344Asp
XR_001738769.2:n.1232A>G
XR_002959304.1:n.1072A>G
NM_001363871.2:c.982A>G	NP_001350800.1:p.Asn328Asp
NM_005019.5:c.1030A>G	NP_005010.2:p.Asn344Asp
NM_001258313.2:c.982A>G	NP_001245242.1:p.Asn328Asp
NM_001258314.2:c.928A>G	NP_001245243.1:p.Asn310Asp
NM_001003683.3:c.1030A>G	NP_001003683.1:p.Asn344Asp
NM_001258312.3:c.1042A>G	NP_001245241.1:p.Asn348Asp
NM_001258313.3:c.982A>G	NP_001245242.1:p.Asn328Asp
NM_001258314.3:c.928A>G	NP_001245243.1:p.Asn310Asp
NM_001363871.4:c.982A>G MANE Select	NP_001350800.1:p.Asn328Asp
NM_001395258.2:c.1030A>G	NP_001382187.1:p.Asn344Asp
NM_001395259.2:c.1030A>G	NP_001382188.1:p.Asn344Asp
NM_001395260.2:c.1030A>G	NP_001382189.1:p.Asn344Asp
NM_001395261.2:c.1030A>G	NP_001382190.1:p.Asn344Asp
NM_001395262.1:c.1030A>G	NP_001382191.1:p.Asn344Asp
NM_001395263.1:c.1030A>G	NP_001382192.1:p.Asn344Asp
NM_001395264.1:c.982A>G	NP_001382193.1:p.Asn328Asp
NM_001395265.2:c.718A>G	NP_001382194.1:p.Asn240Asp
NM_001395266.1:c.1030A>G	NP_001382195.1:p.Asn344Asp
NM_001395267.1:c.1030A>G	NP_001382196.1:p.Asn344Asp
NM_001395268.1:c.982A>G	NP_001382197.1:p.Asn328Asp
NM_001395269.1:c.928A>G	NP_001382198.1:p.Asn310Asp
NM_005019.7:c.1030A>G	NP_005010.2:p.Asn344Asp