Canonical Allele Identifier: CA2714252291
Gene: PDE1C HGNC NCBI

Linked Data

dbSNP Id: rs1809448126

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.32252249C>T , CM000669.2:g.32252249C>T GRCh38
NC_000007.13:g.32291861C>T , CM000669.1:g.32291861C>T GRCh37
NC_000007.12:g.32258386C>T NCBI36
NG_051183.1:g.180976G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000672256.1:c.311-42710G>A ENSP00000499831.1:n.311-42710G>A
ENST00000396193.5:c.86-42710G>A ENSP00000379496.1:n.86-42710G>A
NM_001191058.2:c.86-42710G>A NP_001177987.2:n.86-42710G>A
XM_005249768.3:c.86-42710G>A XP_005249825.2:n.86-42710G>A
XM_011515410.1:c.86-42710G>A XP_011513712.1:n.86-42710G>A
XM_011515411.1:c.86-42710G>A XP_011513713.1:n.86-42710G>A
XM_011515414.1:c.86-42710G>A XP_011513716.1:n.86-42710G>A
NM_001191058.3:c.86-42710G>A NP_001177987.2:n.86-42710G>A
NM_001322058.1:c.86-42710G>A NP_001308987.1:n.86-42710G>A
NM_001322059.1:c.311-42710G>A NP_001308988.1:n.311-42710G>A
XM_017012264.1:c.190+41010G>A XP_016867753.1:n.190+41010G>A
XM_017012265.1:c.25+6628G>A XP_016867754.1:n.25+6628G>A
XM_017012266.1:c.190+41010G>A XP_016867755.1:n.190+41010G>A
XR_001744802.1:n.205+41010G>A
XR_001744803.1:n.205+41010G>A
XR_001744804.1:n.205+41010G>A
XR_001744805.1:n.205+41010G>A
NM_001191058.4:c.86-42710G>A NP_001177987.2:n.86-42710G>A
NM_001322058.2:c.86-42710G>A NP_001308987.1:n.86-42710G>A
NM_001322059.2:c.311-42710G>A NP_001308988.1:n.311-42710G>A