Canonical Allele Identifier: CA396194307
Gene: CDH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398525A>C , CM000678.2:g.66398525A>C GRCh38
NC_000016.9:g.66432428A>C , CM000678.1:g.66432428A>C GRCh37
NC_000016.8:g.64989929A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341529.8:c.1555A>C MANE Select ENSP00000344115.3:p.Asn519His
ENST00000649567.1:c.1555A>C ENSP00000497290.1:p.Asn519His
ENST00000341529.7:c.1555A>C ENSP00000344115.3:p.Asn519His
ENST00000539168.1:c.-129A>C ENSP00000461880.1:n.-129A>C
ENST00000565334.5:c.*678A>C ENSP00000456028.1:n.*678A>C
ENST00000614547.4:c.1210A>C ENSP00000479381.1:p.Asn404His
NM_001795.3:c.1555A>C NP_001786.2:p.Asn519His
XM_011522801.1:c.1582A>C XP_011521103.1:p.Asn528His
NM_001795.4:c.1555A>C NP_001786.2:p.Asn519His
XM_011522801.2:c.1582A>C XP_011521103.1:p.Asn528His
XM_024450133.1:c.1582A>C XP_024305901.1:p.Asn528His
NM_001795.5:c.1555A>C MANE Select NP_001786.2:p.Asn519His