Canonical Allele Identifier: CA981232828
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs78844078
gnomAD v3: 17-8015861-G-A
gnomAD v4: 17-8015861-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015861G>A , CM000679.2:g.8015861G>A GRCh38
NC_000017.10:g.7919179G>A , CM000679.1:g.7919179G>A GRCh37
NC_000017.9:g.7859904G>A NCBI36
NG_009092.1:g.18192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3043+20G>A MANE Select ENSP00000254854.4:n.3043+20G>A
ENST00000254854.4:c.3043+20G>A ENSP00000254854.4:n.3043+20G>A
NM_000180.3:c.3043+20G>A NP_000171.1:n.3043+20G>A
XM_011523816.1:c.3043+20G>A XP_011522118.1:n.3043+20G>A
NM_000180.4:c.3043+20G>A MANE Select NP_000171.1:n.3043+20G>A
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