Canonical Allele Identifier: CA397952453
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8012550-G-A
COSMIC: COSM1709765
MyVariant Identifiers: chr17:g.7915868G>A (hg19) chr17:g.8012550G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012550G>A , CM000679.2:g.8012550G>A GRCh38
NC_000017.10:g.7915868G>A , CM000679.1:g.7915868G>A GRCh37
NC_000017.9:g.7856593G>A NCBI36
NG_009092.1:g.14881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2057G>A MANE Select ENSP00000254854.4:p.Gly686Asp
ENST00000254854.4:c.2057G>A ENSP00000254854.4:p.Gly686Asp
NM_000180.3:c.2057G>A NP_000171.1:p.Gly686Asp
XM_011523816.1:c.2057G>A XP_011522118.1:p.Gly686Asp
NM_000180.4:c.2057G>A MANE Select NP_000171.1:p.Gly686Asp
Search 100 bp 5'
Search 100 bp 3'