Canonical Allele Identifier: CA2228852457
Gene: CDH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398533G= , CM000678.2:g.66398533G= GRCh38
NC_000016.9:g.66432436G= , CM000678.1:g.66432436G= GRCh37
NC_000016.8:g.64989937G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000341529.8:c.1563G= MANE Select ENSP00000344115.3:p.Glu521=
ENST00000649567.1:c.1563G= ENSP00000497290.1:p.Glu521=
ENST00000341529.7:c.1563G= ENSP00000344115.3:p.Glu521=
ENST00000539168.1:c.-121G= ENSP00000461880.1:n.-121G=
ENST00000565334.5:c.*686G= ENSP00000456028.1:n.*686G=
ENST00000614547.4:c.1218G= ENSP00000479381.1:p.Glu406=
NM_001795.3:c.1563G= NP_001786.2:p.Glu521=
XM_011522801.1:c.1590G= XP_011521103.1:p.Glu530=
NM_001795.4:c.1563G= NP_001786.2:p.Glu521=
XM_011522801.2:c.1590G= XP_011521103.1:p.Glu530=
XM_024450133.1:c.1590G= XP_024305901.1:p.Glu530=
NM_001795.5:c.1563G= MANE Select NP_001786.2:p.Glu521=