Canonical Allele Identifier: CA8366220
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs552064079
ExAC: 17:7918603 G / T
gnomAD v2: 17-7918603-G-T
gnomAD v3: 17-8015285-G-T
gnomAD v4: 17-8015285-G-T
MyVariant Identifiers: chr17:g.7918603G>T (hg19) chr17:g.8015285G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015285G>T , CM000679.2:g.8015285G>T GRCh38
NC_000017.10:g.7918603G>T , CM000679.1:g.7918603G>T GRCh37
NC_000017.9:g.7859328G>T NCBI36
NG_009092.1:g.17616G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2770-43G>T MANE Select ENSP00000254854.4:n.2770-43G>T
ENST00000254854.4:c.2770-43G>T ENSP00000254854.4:n.2770-43G>T
NM_000180.3:c.2770-43G>T NP_000171.1:n.2770-43G>T
XM_011523816.1:c.2770-43G>T XP_011522118.1:n.2770-43G>T
NM_000180.4:c.2770-43G>T MANE Select NP_000171.1:n.2770-43G>T
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