Canonical Allele Identifier: CA397955442
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015833C>A , CM000679.2:g.8015833C>A GRCh38
NC_000017.10:g.7919151C>A , CM000679.1:g.7919151C>A GRCh37
NC_000017.9:g.7859876C>A NCBI36
NG_009092.1:g.18164C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3035C>A MANE Select ENSP00000254854.4:p.Thr1012Asn
ENST00000254854.4:c.3035C>A ENSP00000254854.4:p.Thr1012Asn
NM_000180.3:c.3035C>A NP_000171.1:p.Thr1012Asn
XM_011523816.1:c.3035C>A XP_011522118.1:p.Thr1012Asn
NM_000180.4:c.3035C>A MANE Select NP_000171.1:p.Thr1012Asn