Canonical Allele Identifier: CA2580095251
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2121070
ClinVar RCV Id: RCV003027896
gnomAD v4: 17-8015727-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015727C>A , CM000679.2:g.8015727C>A GRCh38
NC_000017.10:g.7919045C>A , CM000679.1:g.7919045C>A GRCh37
NC_000017.9:g.7859770C>A NCBI36
NG_009092.1:g.18058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2945-16C>A MANE Select ENSP00000254854.4:n.2945-16C>A
ENST00000254854.4:c.2945-16C>A ENSP00000254854.4:n.2945-16C>A
NM_000180.3:c.2945-16C>A NP_000171.1:n.2945-16C>A
XM_011523816.1:c.2945-16C>A XP_011522118.1:n.2945-16C>A
NM_000180.4:c.2945-16C>A MANE Select NP_000171.1:n.2945-16C>A
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