Canonical Allele Identifier: CA2246114534
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012575G= , CM000679.2:g.8012575G= GRCh38
NC_000017.10:g.7915893G= , CM000679.1:g.7915893G= GRCh37
NC_000017.9:g.7856618G= NCBI36
NG_009092.1:g.14906G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2082G= MANE Select ENSP00000254854.4:p.Gln694=
ENST00000254854.4:c.2082G= ENSP00000254854.4:p.Gln694=
NM_000180.3:c.2082G= NP_000171.1:p.Gln694=
XM_011523816.1:c.2082G= XP_011522118.1:p.Gln694=
NM_000180.4:c.2082G= MANE Select NP_000171.1:p.Gln694=