Canonical Allele Identifier: CA2246113344
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs781136461
gnomAD v4: 17-8012108-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012108T>C , CM000679.2:g.8012108T>C GRCh38
NC_000017.10:g.7915426T>C , CM000679.1:g.7915426T>C GRCh37
NC_000017.9:g.7856151T>C NCBI36
NG_009092.1:g.14439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-36T>C MANE Select ENSP00000254854.4:n.1750-36T>C
ENST00000254854.4:c.1750-36T>C ENSP00000254854.4:n.1750-36T>C
NM_000180.3:c.1750-36T>C NP_000171.1:n.1750-36T>C
XM_011523816.1:c.1750-36T>C XP_011522118.1:n.1750-36T>C
NM_000180.4:c.1750-36T>C MANE Select NP_000171.1:n.1750-36T>C
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