Canonical Allele Identifier: CA497953067
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1448100751
gnomAD v2: 17-7915509-C-T
gnomAD v4: 17-8012191-C-T
COSMIC: COSM5532127
MyVariant Identifiers: chr17:g.7915509C>T (hg19) chr17:g.8012191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012191C>T , CM000679.2:g.8012191C>T GRCh38
NC_000017.10:g.7915509C>T , CM000679.1:g.7915509C>T GRCh37
NC_000017.9:g.7856234C>T NCBI36
NG_009092.1:g.14522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1797C>T MANE Select ENSP00000254854.4:p.Phe599=
ENST00000254854.4:c.1797C>T ENSP00000254854.4:p.Phe599=
NM_000180.3:c.1797C>T NP_000171.1:p.Phe599=
XM_011523816.1:c.1797C>T XP_011522118.1:p.Phe599=
NM_000180.4:c.1797C>T MANE Select NP_000171.1:p.Phe599=
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