Canonical Allele Identifier: CA397952028
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012453A>G , CM000679.2:g.8012453A>G GRCh38
NC_000017.10:g.7915771A>G , CM000679.1:g.7915771A>G GRCh37
NC_000017.9:g.7856496A>G NCBI36
NG_009092.1:g.14784A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1960A>G MANE Select ENSP00000254854.4:p.Ile654Val
ENST00000254854.4:c.1960A>G ENSP00000254854.4:p.Ile654Val
NM_000180.3:c.1960A>G NP_000171.1:p.Ile654Val
XM_011523816.1:c.1960A>G XP_011522118.1:p.Ile654Val
NM_000180.4:c.1960A>G MANE Select NP_000171.1:p.Ile654Val