Canonical Allele Identifier: CA8365866
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8009597G>A
GRCh37 chr17:g.7912915G>A
gnomAD v2:
17:7912915 G / A
gnomAD v4:
chr17-8009597-G-A
Joint Max Group AF 0.00002988 (EAS)
Exomes Max Group AF 0.00003461 (EAS)
ClinVar RCV:
RCV002130223
ClinVar Variation:
1625064
dbSNP:
759723474
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8009597G>A , CM000679.2:g.8009597G>A GRCh38
NC_000017.10:g.7912915G>A , CM000679.1:g.7912915G>A GRCh37
NC_000017.9:g.7853640G>A NCBI36
NG_009092.1:g.11928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1749+11G>A MANE Select ENSP00000254854.4:n.1749+11G>A
ENST00000254854.4:c.1749+11G>A ENSP00000254854.4:n.1749+11G>A
NM_000180.3:c.1749+11G>A NP_000171.1:n.1749+11G>A
XM_011523816.1:c.1749+11G>A XP_011522118.1:n.1749+11G>A
NM_000180.4:c.1749+11G>A MANE Select NP_000171.1:n.1749+11G>A
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