Canonical Allele Identifier: CA2635949921
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2942399
ClinVar RCV Id: RCV003805613
gnomAD v4: 17-8012619-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012619T>C , CM000679.2:g.8012619T>C GRCh38
NC_000017.10:g.7915937T>C , CM000679.1:g.7915937T>C GRCh37
NC_000017.9:g.7856662T>C NCBI36
NG_009092.1:g.14950T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+13T>C MANE Select ENSP00000254854.4:n.2113+13T>C
ENST00000254854.4:c.2113+13T>C ENSP00000254854.4:n.2113+13T>C
NM_000180.3:c.2113+13T>C NP_000171.1:n.2113+13T>C
XM_011523816.1:c.2113+13T>C XP_011522118.1:n.2113+13T>C
NM_000180.4:c.2113+13T>C MANE Select NP_000171.1:n.2113+13T>C
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