Canonical Allele Identifier: CA397951272
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1959380
ClinVar RCV Id: RCV002710231
gnomAD v4: 17-8012174-C-T
MyVariant Identifiers: chr17:g.7915492C>T (hg19) chr17:g.8012174C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012174C>T , CM000679.2:g.8012174C>T GRCh38
NC_000017.10:g.7915492C>T , CM000679.1:g.7915492C>T GRCh37
NC_000017.9:g.7856217C>T NCBI36
NG_009092.1:g.14505C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.1780C>T MANE Select ENSP00000254854.4:p.Leu594Phe
ENST00000254854.4:c.1780C>T ENSP00000254854.4:p.Leu594Phe
NM_000180.3:c.1780C>T NP_000171.1:p.Leu594Phe
XM_011523816.1:c.1780C>T XP_011522118.1:p.Leu594Phe
NM_000180.4:c.1780C>T MANE Select NP_000171.1:p.Leu594Phe
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