Canonical Allele Identifier: CA397955344
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs563005151
gnomAD v2: 17-7919128-C-A
gnomAD v4: 17-8015810-C-A
MyVariant Identifiers: chr17:g.7919128C>A (hg19) chr17:g.8015810C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3012C>A MANE Select ENSP00000254854.4:p.Asn1004Lys
ENST00000254854.4:c.3012C>A ENSP00000254854.4:p.Asn1004Lys
NM_000180.3:c.3012C>A NP_000171.1:p.Asn1004Lys
XM_011523816.1:c.3012C>A XP_011522118.1:p.Asn1004Lys
NM_000180.4:c.3012C>A MANE Select NP_000171.1:p.Asn1004Lys
Search 100 bp 5'
Search 100 bp 3'