Canonical Allele Identifier: CA981232748

Gene: GUCY2D

Linked Data

• gnomAD v3: 17-8015729-C-G
• gnomAD v4: 17-8015729-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8015729C>G , CM000679.2:g.8015729C>G	GRCh38
NC_000017.10:g.7919047C>G , CM000679.1:g.7919047C>G	GRCh37
NC_000017.9:g.7859772C>G	NCBI36
NG_009092.1:g.18060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.2945-14C>G MANE Select	ENSP00000254854.4:n.2945-14C>G
ENST00000254854.4:c.2945-14C>G	ENSP00000254854.4:n.2945-14C>G
NM_000180.3:c.2945-14C>G	NP_000171.1:n.2945-14C>G
XM_011523816.1:c.2945-14C>G	XP_011522118.1:n.2945-14C>G
NM_000180.4:c.2945-14C>G MANE Select	NP_000171.1:n.2945-14C>G