Canonical Allele Identifier: CA397943971
Gene: GUCY2D HGNC NCBI

Linked Data

gnomAD v4: 17-8003557-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003557T>G , CM000679.2:g.8003557T>G GRCh38
NC_000017.10:g.7906875T>G , CM000679.1:g.7906875T>G GRCh37
NC_000017.9:g.7847600T>G NCBI36
NG_009092.1:g.5888T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.510T>G MANE Select ENSP00000254854.4:p.Asp170Glu
ENST00000254854.4:c.510T>G ENSP00000254854.4:p.Asp170Glu
NM_000180.3:c.510T>G NP_000171.1:p.Asp170Glu
XM_011523816.1:c.510T>G XP_011522118.1:p.Asp170Glu
NM_000180.4:c.510T>G MANE Select NP_000171.1:p.Asp170Glu