Canonical Allele Identifier: CA8366278
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1627077
ClinVar RCV Id: RCV002120739
dbSNP Id: rs563005151
ExAC: 17:7919128 C / T
gnomAD v2: 17-7919128-C-T
gnomAD v3: 17-8015810-C-T
gnomAD v4: 17-8015810-C-T
MyVariant Identifiers: chr17:g.7919128C>T (hg19) chr17:g.8015810C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015810C>T , CM000679.2:g.8015810C>T GRCh38
NC_000017.10:g.7919128C>T , CM000679.1:g.7919128C>T GRCh37
NC_000017.9:g.7859853C>T NCBI36
NG_009092.1:g.18141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3012C>T MANE Select ENSP00000254854.4:p.Asn1004=
ENST00000254854.4:c.3012C>T ENSP00000254854.4:p.Asn1004=
NM_000180.3:c.3012C>T NP_000171.1:p.Asn1004=
XM_011523816.1:c.3012C>T XP_011522118.1:p.Asn1004=
NM_000180.4:c.3012C>T MANE Select NP_000171.1:p.Asn1004=
Search 100 bp 5'
Search 100 bp 3'