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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:
CA397955289
Gene: GUCY2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
803317
ClinVar RCV Id:
RCV000989744
dbSNP Id:
rs1598151461
gnomAD v4:
17-8015797-G-A
MyVariant Identifiers:
chr17:g.7919115G>A (hg19)
chr17:g.8015797G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8015797G>A , CM000679.2:g.8015797G>A
GRCh38
NC_000017.10:g.7919115G>A , CM000679.1:g.7919115G>A
GRCh37
NC_000017.9:g.7859840G>A
NCBI36
NG_009092.1:g.18128G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000254854.5:c.2999G>A
MANE Select
ENSP00000254854.4:p.Gly1000Glu
ENST00000254854.4:c.2999G>A
ENSP00000254854.4:p.Gly1000Glu
NM_000180.3:c.2999G>A
NP_000171.1:p.Gly1000Glu
XM_011523816.1:c.2999G>A
XP_011522118.1:p.Gly1000Glu
NM_000180.4:c.2999G>A
MANE Select
NP_000171.1:p.Gly1000Glu
Search 100 bp 5'
Search 100 bp 3'