Canonical Allele Identifier: CA396194389
Gene: CDH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398541T>A , CM000678.2:g.66398541T>A GRCh38
NC_000016.9:g.66432444T>A , CM000678.1:g.66432444T>A GRCh37
NC_000016.8:g.64989945T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000341529.8:c.1571T>A MANE Select ENSP00000344115.3:p.Phe524Tyr
ENST00000649567.1:c.1571T>A ENSP00000497290.1:p.Phe524Tyr
ENST00000341529.7:c.1571T>A ENSP00000344115.3:p.Phe524Tyr
ENST00000539168.1:c.-113T>A ENSP00000461880.1:n.-113T>A
ENST00000565334.5:c.*694T>A ENSP00000456028.1:n.*694T>A
ENST00000614547.4:c.1226T>A ENSP00000479381.1:p.Phe409Tyr
NM_001795.3:c.1571T>A NP_001786.2:p.Phe524Tyr
XM_011522801.1:c.1598T>A XP_011521103.1:p.Phe533Tyr
NM_001795.4:c.1571T>A NP_001786.2:p.Phe524Tyr
XM_011522801.2:c.1598T>A XP_011521103.1:p.Phe533Tyr
XM_024450133.1:c.1598T>A XP_024305901.1:p.Phe533Tyr
NM_001795.5:c.1571T>A MANE Select NP_001786.2:p.Phe524Tyr