Canonical Allele Identifier: CA397955294
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1254226185
gnomAD v2: 17-7919117-G-A
gnomAD v4: 17-8015799-G-A
MyVariant Identifiers: chr17:g.7919117G>A (hg19) chr17:g.8015799G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015799G>A , CM000679.2:g.8015799G>A GRCh38
NC_000017.10:g.7919117G>A , CM000679.1:g.7919117G>A GRCh37
NC_000017.9:g.7859842G>A NCBI36
NG_009092.1:g.18130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3001G>A MANE Select ENSP00000254854.4:p.Asp1001Asn
ENST00000254854.4:c.3001G>A ENSP00000254854.4:p.Asp1001Asn
NM_000180.3:c.3001G>A NP_000171.1:p.Asp1001Asn
XM_011523816.1:c.3001G>A XP_011522118.1:p.Asp1001Asn
NM_000180.4:c.3001G>A MANE Select NP_000171.1:p.Asp1001Asn
Search 100 bp 5'
Search 100 bp 3'