Canonical Allele Identifier: CA981230659
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1564611
ClinVar RCV Id: RCV002212746
dbSNP Id: rs201717870
gnomAD v3: 17-8012615-C-A
gnomAD v4: 17-8012615-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012615C>A , CM000679.2:g.8012615C>A GRCh38
NC_000017.10:g.7915933C>A , CM000679.1:g.7915933C>A GRCh37
NC_000017.9:g.7856658C>A NCBI36
NG_009092.1:g.14946C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+9C>A MANE Select ENSP00000254854.4:n.2113+9C>A
ENST00000254854.4:c.2113+9C>A ENSP00000254854.4:n.2113+9C>A
NM_000180.3:c.2113+9C>A NP_000171.1:n.2113+9C>A
XM_011523816.1:c.2113+9C>A XP_011522118.1:n.2113+9C>A
NM_000180.4:c.2113+9C>A MANE Select NP_000171.1:n.2113+9C>A
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