Canonical Allele Identifier: CA397952351
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs776298636
gnomAD v2: 17-7915845-C-G
gnomAD v4: 17-8012527-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012527C>G , CM000679.2:g.8012527C>G GRCh38
NC_000017.10:g.7915845C>G , CM000679.1:g.7915845C>G GRCh37
NC_000017.9:g.7856570C>G NCBI36
NG_009092.1:g.14858C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2034C>G MANE Select ENSP00000254854.4:p.Phe678Leu
ENST00000254854.4:c.2034C>G ENSP00000254854.4:p.Phe678Leu
NM_000180.3:c.2034C>G NP_000171.1:p.Phe678Leu
XM_011523816.1:c.2034C>G XP_011522118.1:p.Phe678Leu
NM_000180.4:c.2034C>G MANE Select NP_000171.1:p.Phe678Leu