Canonical Allele Identifier: CA624867965
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1359016577
gnomAD v2: 17-7918636-C-A
gnomAD v4: 17-8015318-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015318C>A , CM000679.2:g.8015318C>A GRCh38
NC_000017.10:g.7918636C>A , CM000679.1:g.7918636C>A GRCh37
NC_000017.9:g.7859361C>A NCBI36
NG_009092.1:g.17649C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2770-10C>A MANE Select ENSP00000254854.4:n.2770-10C>A
ENST00000254854.4:c.2770-10C>A ENSP00000254854.4:n.2770-10C>A
NM_000180.3:c.2770-10C>A NP_000171.1:n.2770-10C>A
XM_011523816.1:c.2770-10C>A XP_011522118.1:n.2770-10C>A
NM_000180.4:c.2770-10C>A MANE Select NP_000171.1:n.2770-10C>A