Canonical Allele Identifier: CA226112
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 98584
dbSNP Id: rs61750187
gnomAD v4: 17-8015781-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015781C>T , CM000679.2:g.8015781C>T GRCh38
NC_000017.10:g.7919099C>T , CM000679.1:g.7919099C>T GRCh37
NC_000017.9:g.7859824C>T NCBI36
NG_009092.1:g.18112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2983C>T MANE Select ENSP00000254854.4:p.Arg995Trp
ENST00000254854.4:c.2983C>T ENSP00000254854.4:p.Arg995Trp
NM_000180.3:c.2983C>T NP_000171.1:p.Arg995Trp
XM_011523816.1:c.2983C>T XP_011522118.1:p.Arg995Trp
NM_000180.4:c.2983C>T MANE Select NP_000171.1:p.Arg995Trp