Canonical Allele Identifier: CA2635955857
Gene: GUCY2D HGNC NCBI
gnomAD v4:
chr17-8016201-C-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003813476
ClinVar Variation:
2954253
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8016201C>T , CM000679.2:g.8016201C>T GRCh38
NC_000017.10:g.7919519C>T , CM000679.1:g.7919519C>T GRCh37
NC_000017.9:g.7860244C>T NCBI36
NG_009092.1:g.18532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3139-4C>T MANE Select ENSP00000254854.4:n.3139-4C>T
ENST00000254854.4:c.3139-4C>T ENSP00000254854.4:n.3139-4C>T
ENST00000574510.1:n.73C>T
NM_000180.3:c.3139-4C>T NP_000171.1:n.3139-4C>T
XM_011523816.1:c.3139-4C>T XP_011522118.1:n.3139-4C>T
NM_000180.4:c.3139-4C>T MANE Select NP_000171.1:n.3139-4C>T
Search 100 bp 5'
Search 100 bp 3'