Canonical Allele Identifier: CA397952542
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012571C>T , CM000679.2:g.8012571C>T GRCh38
NC_000017.10:g.7915889C>T , CM000679.1:g.7915889C>T GRCh37
NC_000017.9:g.7856614C>T NCBI36
NG_009092.1:g.14902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2078C>T MANE Select ENSP00000254854.4:p.Ala693Val
ENST00000254854.4:c.2078C>T ENSP00000254854.4:p.Ala693Val
NM_000180.3:c.2078C>T NP_000171.1:p.Ala693Val
XM_011523816.1:c.2078C>T XP_011522118.1:p.Ala693Val
NM_000180.4:c.2078C>T MANE Select NP_000171.1:p.Ala693Val