Canonical Allele Identifier: CA287531397
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs780687906
gnomAD v2: 17-7915946-G-A
gnomAD v3: 17-8012628-G-A
gnomAD v4: 17-8012628-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012628G>A , CM000679.2:g.8012628G>A GRCh38
NC_000017.10:g.7915946G>A , CM000679.1:g.7915946G>A GRCh37
NC_000017.9:g.7856671G>A NCBI36
NG_009092.1:g.14959G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2113+22G>A MANE Select ENSP00000254854.4:n.2113+22G>A
ENST00000254854.4:c.2113+22G>A ENSP00000254854.4:n.2113+22G>A
NM_000180.3:c.2113+22G>A NP_000171.1:n.2113+22G>A
XM_011523816.1:c.2113+22G>A XP_011522118.1:n.2113+22G>A
NM_000180.4:c.2113+22G>A MANE Select NP_000171.1:n.2113+22G>A