Canonical Allele Identifier: CA397955195
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015775A>G , CM000679.2:g.8015775A>G GRCh38
NC_000017.10:g.7919093A>G , CM000679.1:g.7919093A>G GRCh37
NC_000017.9:g.7859818A>G NCBI36
NG_009092.1:g.18106A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2977A>G MANE Select ENSP00000254854.4:p.Met993Val
ENST00000254854.4:c.2977A>G ENSP00000254854.4:p.Met993Val
NM_000180.3:c.2977A>G NP_000171.1:p.Met993Val
XM_011523816.1:c.2977A>G XP_011522118.1:p.Met993Val
NM_000180.4:c.2977A>G MANE Select NP_000171.1:p.Met993Val