Canonical Allele Identifier: CA397944027
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003576C>T , CM000679.2:g.8003576C>T GRCh38
NC_000017.10:g.7906894C>T , CM000679.1:g.7906894C>T GRCh37
NC_000017.9:g.7847619C>T NCBI36
NG_009092.1:g.5907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.529C>T MANE Select ENSP00000254854.4:p.Arg177Cys
ENST00000254854.4:c.529C>T ENSP00000254854.4:p.Arg177Cys
NM_000180.3:c.529C>T NP_000171.1:p.Arg177Cys
XM_011523816.1:c.529C>T XP_011522118.1:p.Arg177Cys
NM_000180.4:c.529C>T MANE Select NP_000171.1:p.Arg177Cys