Canonical Allele Identifier: CA397952648
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1423478
ClinVar RCV Id: RCV001928869
dbSNP Id: rs1270111845
gnomAD v4: 17-8012600-G-A
MyVariant Identifiers: chr17:g.7915918G>A (hg19) chr17:g.8012600G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012600G>A , CM000679.2:g.8012600G>A GRCh38
NC_000017.10:g.7915918G>A , CM000679.1:g.7915918G>A GRCh37
NC_000017.9:g.7856643G>A NCBI36
NG_009092.1:g.14931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2107G>A MANE Select ENSP00000254854.4:p.Ala703Thr
ENST00000254854.4:c.2107G>A ENSP00000254854.4:p.Ala703Thr
NM_000180.3:c.2107G>A NP_000171.1:p.Ala703Thr
XM_011523816.1:c.2107G>A XP_011522118.1:p.Ala703Thr
NM_000180.4:c.2107G>A MANE Select NP_000171.1:p.Ala703Thr
Search 100 bp 5'
Search 100 bp 3'