Canonical Allele Identifier: CA981232319
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1975941121
gnomAD v3: 17-8015227-T-G
gnomAD v4: 17-8015227-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015227T>G , CM000679.2:g.8015227T>G GRCh38
NC_000017.10:g.7918545T>G , CM000679.1:g.7918545T>G GRCh37
NC_000017.9:g.7859270T>G NCBI36
NG_009092.1:g.17558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2770-101T>G MANE Select ENSP00000254854.4:n.2770-101T>G
ENST00000254854.4:c.2770-101T>G ENSP00000254854.4:n.2770-101T>G
NM_000180.3:c.2770-101T>G NP_000171.1:n.2770-101T>G
XM_011523816.1:c.2770-101T>G XP_011522118.1:n.2770-101T>G
NM_000180.4:c.2770-101T>G MANE Select NP_000171.1:n.2770-101T>G
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