Canonical Allele Identifier: CA981232390
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2953780
ClinVar RCV Id: RCV003813003
dbSNP Id: rs1975943374
gnomAD v3: 17-8015324-C-T
gnomAD v4: 17-8015324-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015324C>T , CM000679.2:g.8015324C>T GRCh38
NC_000017.10:g.7918642C>T , CM000679.1:g.7918642C>T GRCh37
NC_000017.9:g.7859367C>T NCBI36
NG_009092.1:g.17655C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.2770-4C>T MANE Select ENSP00000254854.4:n.2770-4C>T
ENST00000254854.4:c.2770-4C>T ENSP00000254854.4:n.2770-4C>T
NM_000180.3:c.2770-4C>T NP_000171.1:n.2770-4C>T
XM_011523816.1:c.2770-4C>T XP_011522118.1:n.2770-4C>T
NM_000180.4:c.2770-4C>T MANE Select NP_000171.1:n.2770-4C>T
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