Canonical Allele Identifier: CA397952493
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012559G>T , CM000679.2:g.8012559G>T GRCh38
NC_000017.10:g.7915877G>T , CM000679.1:g.7915877G>T GRCh37
NC_000017.9:g.7856602G>T NCBI36
NG_009092.1:g.14890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2066G>T MANE Select ENSP00000254854.4:p.Arg689Ile
ENST00000254854.4:c.2066G>T ENSP00000254854.4:p.Arg689Ile
NM_000180.3:c.2066G>T NP_000171.1:p.Arg689Ile
XM_011523816.1:c.2066G>T XP_011522118.1:p.Arg689Ile
NM_000180.4:c.2066G>T MANE Select NP_000171.1:p.Arg689Ile