Canonical Allele Identifier: CA2246053625
Gene: GUCY2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003650G= , CM000679.2:g.8003650G= GRCh38
NC_000017.10:g.7906968G= , CM000679.1:g.7906968G= GRCh37
NC_000017.9:g.7847693G= NCBI36
NG_009092.1:g.5981G=

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.603G= MANE Select ENSP00000254854.4:p.Leu201=
ENST00000254854.4:c.603G= ENSP00000254854.4:p.Leu201=
NM_000180.3:c.603G= NP_000171.1:p.Leu201=
XM_011523816.1:c.603G= XP_011522118.1:p.Leu201=
NM_000180.4:c.603G= MANE Select NP_000171.1:p.Leu201=