Canonical Allele Identifier: CA397955106
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015752T>C , CM000679.2:g.8015752T>C GRCh38
NC_000017.10:g.7919070T>C , CM000679.1:g.7919070T>C GRCh37
NC_000017.9:g.7859795T>C NCBI36
NG_009092.1:g.18083T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2954T>C MANE Select ENSP00000254854.4:p.Val985Ala
ENST00000254854.4:c.2954T>C ENSP00000254854.4:p.Val985Ala
NM_000180.3:c.2954T>C NP_000171.1:p.Val985Ala
XM_011523816.1:c.2954T>C XP_011522118.1:p.Val985Ala
NM_000180.4:c.2954T>C MANE Select NP_000171.1:p.Val985Ala