Canonical Allele Identifier: CA8366276
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs547885527
ExAC: 17:7919112 T / A
gnomAD v3: 17-8015794-T-A
gnomAD v4: 17-8015794-T-A
MyVariant Identifiers: chr17:g.7919112T>A (hg19) chr17:g.8015794T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015794T>A , CM000679.2:g.8015794T>A GRCh38
NC_000017.10:g.7919112T>A , CM000679.1:g.7919112T>A GRCh37
NC_000017.9:g.7859837T>A NCBI36
NG_009092.1:g.18125T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2996T>A MANE Select ENSP00000254854.4:p.Phe999Tyr
ENST00000254854.4:c.2996T>A ENSP00000254854.4:p.Phe999Tyr
NM_000180.3:c.2996T>A NP_000171.1:p.Phe999Tyr
XM_011523816.1:c.2996T>A XP_011522118.1:p.Phe999Tyr
NM_000180.4:c.2996T>A MANE Select NP_000171.1:p.Phe999Tyr
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