Canonical Allele Identifier: CA397943047
Gene: GUCY2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003298T>G , CM000679.2:g.8003298T>G GRCh38
NC_000017.10:g.7906616T>G , CM000679.1:g.7906616T>G GRCh37
NC_000017.9:g.7847341T>G NCBI36
NG_009092.1:g.5629T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.251T>G MANE Select ENSP00000254854.4:p.Leu84Arg
ENST00000254854.4:c.251T>G ENSP00000254854.4:p.Leu84Arg
NM_000180.3:c.251T>G NP_000171.1:p.Leu84Arg
XM_011523816.1:c.251T>G XP_011522118.1:p.Leu84Arg
NM_000180.4:c.251T>G MANE Select NP_000171.1:p.Leu84Arg