Canonical Allele Identifier: CA287533997
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs564839085
gnomAD v2: 17-7918990-C-A
gnomAD v3: 17-8015672-C-A
gnomAD v4: 17-8015672-C-A
MyVariant Identifiers: chr17:g.7918990C>A (hg19) chr17:g.8015672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015672C>A , CM000679.2:g.8015672C>A GRCh38
NC_000017.10:g.7918990C>A , CM000679.1:g.7918990C>A GRCh37
NC_000017.9:g.7859715C>A NCBI36
NG_009092.1:g.18003C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2945-71C>A MANE Select ENSP00000254854.4:n.2945-71C>A
ENST00000254854.4:c.2945-71C>A ENSP00000254854.4:n.2945-71C>A
NM_000180.3:c.2945-71C>A NP_000171.1:n.2945-71C>A
XM_011523816.1:c.2945-71C>A XP_011522118.1:n.2945-71C>A
NM_000180.4:c.2945-71C>A MANE Select NP_000171.1:n.2945-71C>A
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