Canonical Allele Identifier: CA8365983
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs35146471
ExAC: 17:7915889 C / A
gnomAD v2: 17-7915889-C-A
gnomAD v3: 17-8012571-C-A
gnomAD v4: 17-8012571-C-A
MyVariant Identifiers: chr17:g.7915889C>A (hg19) chr17:g.8012571C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012571C>A , CM000679.2:g.8012571C>A GRCh38
NC_000017.10:g.7915889C>A , CM000679.1:g.7915889C>A GRCh37
NC_000017.9:g.7856614C>A NCBI36
NG_009092.1:g.14902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2078C>A MANE Select ENSP00000254854.4:p.Ala693Glu
ENST00000254854.4:c.2078C>A ENSP00000254854.4:p.Ala693Glu
NM_000180.3:c.2078C>A NP_000171.1:p.Ala693Glu
XM_011523816.1:c.2078C>A XP_011522118.1:p.Ala693Glu
NM_000180.4:c.2078C>A MANE Select NP_000171.1:p.Ala693Glu
Search 100 bp 5'
Search 100 bp 3'