Canonical Allele Identifier: CA2246113514
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012162G= , CM000679.2:g.8012162G= GRCh38
NC_000017.10:g.7915480G= , CM000679.1:g.7915480G= GRCh37
NC_000017.9:g.7856205G= NCBI36
NG_009092.1:g.14493G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1768G= MANE Select ENSP00000254854.4:p.Glu590=
ENST00000254854.4:c.1768G= ENSP00000254854.4:p.Glu590=
NM_000180.3:c.1768G= NP_000171.1:p.Glu590=
XM_011523816.1:c.1768G= XP_011522118.1:p.Glu590=
NM_000180.4:c.1768G= MANE Select NP_000171.1:p.Glu590=