Canonical Allele Identifier: CA2246113782
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012242T= , CM000679.2:g.8012242T= GRCh38
NC_000017.10:g.7915560T= , CM000679.1:g.7915560T= GRCh37
NC_000017.9:g.7856285T= NCBI36
NG_009092.1:g.14573T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1848T= MANE Select ENSP00000254854.4:p.Ala616=
ENST00000254854.4:c.1848T= ENSP00000254854.4:p.Ala616=
NM_000180.3:c.1848T= NP_000171.1:p.Ala616=
XM_011523816.1:c.1848T= XP_011522118.1:p.Ala616=
NM_000180.4:c.1848T= MANE Select NP_000171.1:p.Ala616=