Canonical Allele Identifier: CA2246053520
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003571T= , CM000679.2:g.8003571T= GRCh38
NC_000017.10:g.7906889T= , CM000679.1:g.7906889T= GRCh37
NC_000017.9:g.7847614T= NCBI36
NG_009092.1:g.5902T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.524T= MANE Select ENSP00000254854.4:p.Leu175=
ENST00000254854.4:c.524T= ENSP00000254854.4:p.Leu175=
NM_000180.3:c.524T= NP_000171.1:p.Leu175=
XM_011523816.1:c.524T= XP_011522118.1:p.Leu175=
NM_000180.4:c.524T= MANE Select NP_000171.1:p.Leu175=