Canonical Allele Identifier: CA2246120844
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015745C= , CM000679.2:g.8015745C= GRCh38
NC_000017.10:g.7919063C= , CM000679.1:g.7919063C= GRCh37
NC_000017.9:g.7859788C= NCBI36
NG_009092.1:g.18076C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2947C= MANE Select ENSP00000254854.4:p.Pro983=
ENST00000254854.4:c.2947C= ENSP00000254854.4:p.Pro983=
NM_000180.3:c.2947C= NP_000171.1:p.Pro983=
XM_011523816.1:c.2947C= XP_011522118.1:p.Pro983=
NM_000180.4:c.2947C= MANE Select NP_000171.1:p.Pro983=