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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:
CA145842
Gene: GUCY2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9353
ClinVar RCV Id:
RCV000009947
RCV000078318
RCV000084835
dbSNP Id:
rs61749665
ExAC:
17:7906519 G / T
gnomAD v2:
17-7906519-G-T
gnomAD v3:
17-8003201-G-T
gnomAD v4:
17-8003201-G-T
MyVariant Identifiers:
chr17:g.7906519G>T (hg19)
chr17:g.8003201G>T (hg38)
PubMed:
PMID:8944027
PMID:9683616
PMID:23757202
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8003201G>T , CM000679.2:g.8003201G>T
GRCh38
NC_000017.10:g.7906519G>T , CM000679.1:g.7906519G>T
GRCh37
NC_000017.9:g.7847244G>T
NCBI36
NG_009092.1:g.5532G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000254854.5:c.154G>T
MANE Select
ENSP00000254854.4:p.Ala52Ser
ENST00000254854.4:c.154G>T
ENSP00000254854.4:p.Ala52Ser
NM_000180.3:c.154G>T
NP_000171.1:p.Ala52Ser
XM_011523816.1:c.154G>T
XP_011522118.1:p.Ala52Ser
NM_000180.4:c.154G>T
MANE Select
NP_000171.1:p.Ala52Ser
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