Canonical Allele Identifier: CA397943031
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003291-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003291G>A , CM000679.2:g.8003291G>A GRCh38
NC_000017.10:g.7906609G>A , CM000679.1:g.7906609G>A GRCh37
NC_000017.9:g.7847334G>A NCBI36
NG_009092.1:g.5622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.244G>A MANE Select ENSP00000254854.4:p.Ala82Thr
ENST00000254854.4:c.244G>A ENSP00000254854.4:p.Ala82Thr
NM_000180.3:c.244G>A NP_000171.1:p.Ala82Thr
XM_011523816.1:c.244G>A XP_011522118.1:p.Ala82Thr
NM_000180.4:c.244G>A MANE Select NP_000171.1:p.Ala82Thr