Canonical Allele Identifier: CA8366226
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs772112577
gnomAD v2: 17-7918654-A-G
gnomAD v4: 17-8015336-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015336A>G , CM000679.2:g.8015336A>G GRCh38
NC_000017.10:g.7918654A>G , CM000679.1:g.7918654A>G GRCh37
NC_000017.9:g.7859379A>G NCBI36
NG_009092.1:g.17667A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2778A>G MANE Select ENSP00000254854.4:p.Thr926=
ENST00000254854.4:c.2778A>G ENSP00000254854.4:p.Thr926=
NM_000180.3:c.2778A>G NP_000171.1:p.Thr926=
XM_011523816.1:c.2778A>G XP_011522118.1:p.Thr926=
NM_000180.4:c.2778A>G MANE Select NP_000171.1:p.Thr926=