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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA156183898
Gene: PDE1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs896054753
gnomAD v2:
7-32444580-A-C
gnomAD v3:
7-32404968-A-C
gnomAD v4:
7-32404968-A-C
MyVariant Identifiers:
chr7:g.32444580A>C (hg19)
chr7:g.32404968A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.32404968A>C , CM000669.2:g.32404968A>C
GRCh38
NC_000007.13:g.32444580A>C , CM000669.1:g.32444580A>C
GRCh37
NC_000007.12:g.32411105A>C
NCBI36
NG_051183.1:g.28257T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000672256.1:c.310+22854T>G
ENSP00000499831.1:n.310+22854T>G
NM_001322059.1:c.310+22854T>G
NP_001308988.1:n.310+22854T>G
NM_001322059.2:c.310+22854T>G
NP_001308988.1:n.310+22854T>G
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