Canonical Allele Identifier: CA226146
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98604
ClinVar RCV Id: RCV000084899 RCV001250812 RCV001388964
dbSNP Id: rs281865409
gnomAD v3: 17-8003050-G-C
gnomAD v4: 17-8003050-G-C
MyVariant Identifiers: chr17:g.7906368G>C (hg19) chr17:g.8003050G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003050G>C , CM000679.2:g.8003050G>C GRCh38
NC_000017.10:g.7906368G>C , CM000679.1:g.7906368G>C GRCh37
NC_000017.9:g.7847093G>C NCBI36
NG_009092.1:g.5381G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3G>C MANE Select ENSP00000254854.4:p.Met1Ile
ENST00000254854.4:c.3G>C ENSP00000254854.4:p.Met1Ile
NM_000180.3:c.3G>C NP_000171.1:p.Met1Ile
XM_011523816.1:c.3G>C XP_011522118.1:p.Met1Ile
NM_000180.4:c.3G>C MANE Select NP_000171.1:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'