Canonical Allele Identifier: CA397955358
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8015814-G-A
COSMIC: COSM2804713
MyVariant Identifiers: chr17:g.7919132G>A (hg19) chr17:g.8015814G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015814G>A , CM000679.2:g.8015814G>A GRCh38
NC_000017.10:g.7919132G>A , CM000679.1:g.7919132G>A GRCh37
NC_000017.9:g.7859857G>A NCBI36
NG_009092.1:g.18145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3016G>A MANE Select ENSP00000254854.4:p.Ala1006Thr
ENST00000254854.4:c.3016G>A ENSP00000254854.4:p.Ala1006Thr
NM_000180.3:c.3016G>A NP_000171.1:p.Ala1006Thr
XM_011523816.1:c.3016G>A XP_011522118.1:p.Ala1006Thr
NM_000180.4:c.3016G>A MANE Select NP_000171.1:p.Ala1006Thr
Search 100 bp 5'
Search 100 bp 3'