Canonical Allele Identifier: CA2808393045
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012427C>A , CM000679.2:g.8012427C>A GRCh38
NC_000017.10:g.7915745C>A , CM000679.1:g.7915745C>A GRCh37
NC_000017.9:g.7856470C>A NCBI36
NG_009092.1:g.14758C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1957-23C>A MANE Select ENSP00000254854.4:n.1957-23C>A
ENST00000254854.4:c.1957-23C>A ENSP00000254854.4:n.1957-23C>A
NM_000180.3:c.1957-23C>A NP_000171.1:n.1957-23C>A
XM_011523816.1:c.1957-23C>A XP_011522118.1:n.1957-23C>A
NM_000180.4:c.1957-23C>A MANE Select NP_000171.1:n.1957-23C>A