Canonical Allele Identifier: CA624868024
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1531093
ClinVar RCV Id: RCV002092269
dbSNP Id: rs1178871111
gnomAD v2: 17-7919173-G-A
gnomAD v3: 17-8015855-G-A
gnomAD v4: 17-8015855-G-A
MyVariant Identifiers: chr17:g.7919173G>A (hg19) chr17:g.8015855G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015855G>A , CM000679.2:g.8015855G>A GRCh38
NC_000017.10:g.7919173G>A , CM000679.1:g.7919173G>A GRCh37
NC_000017.9:g.7859898G>A NCBI36
NG_009092.1:g.18186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3043+14G>A MANE Select ENSP00000254854.4:n.3043+14G>A
ENST00000254854.4:c.3043+14G>A ENSP00000254854.4:n.3043+14G>A
NM_000180.3:c.3043+14G>A NP_000171.1:n.3043+14G>A
XM_011523816.1:c.3043+14G>A XP_011522118.1:n.3043+14G>A
NM_000180.4:c.3043+14G>A MANE Select NP_000171.1:n.3043+14G>A
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