Canonical Allele Identifier: CA397942941
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003244-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003244C>A , CM000679.2:g.8003244C>A GRCh38
NC_000017.10:g.7906562C>A , CM000679.1:g.7906562C>A GRCh37
NC_000017.9:g.7847287C>A NCBI36
NG_009092.1:g.5575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.197C>A MANE Select ENSP00000254854.4:p.Pro66His
ENST00000254854.4:c.197C>A ENSP00000254854.4:p.Pro66His
NM_000180.3:c.197C>A NP_000171.1:p.Pro66His
XM_011523816.1:c.197C>A XP_011522118.1:p.Pro66His
NM_000180.4:c.197C>A MANE Select NP_000171.1:p.Pro66His