Canonical Allele Identifier: CA2246121148
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015829T= , CM000679.2:g.8015829T= GRCh38
NC_000017.10:g.7919147T= , CM000679.1:g.7919147T= GRCh37
NC_000017.9:g.7859872T= NCBI36
NG_009092.1:g.18160T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3031T= MANE Select ENSP00000254854.4:p.Ser1011=
ENST00000254854.4:c.3031T= ENSP00000254854.4:p.Ser1011=
NM_000180.3:c.3031T= NP_000171.1:p.Ser1011=
XM_011523816.1:c.3031T= XP_011522118.1:p.Ser1011=
NM_000180.4:c.3031T= MANE Select NP_000171.1:p.Ser1011=