Canonical Allele Identifier: CA622890153
Gene: CDH5 HGNC NCBI

Linked Data

dbSNP Id: rs1358307288

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398594T>C , CM000678.2:g.66398594T>C GRCh38
NC_000016.9:g.66432497T>C , CM000678.1:g.66432497T>C GRCh37
NC_000016.8:g.64989998T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000341529.8:c.1591+33T>C MANE Select ENSP00000344115.3:n.1591+33T>C
ENST00000649567.1:c.1591+33T>C ENSP00000497290.1:n.1591+33T>C
ENST00000341529.7:c.1591+33T>C ENSP00000344115.3:n.1591+33T>C
ENST00000539168.1:c.-93+33T>C ENSP00000461880.1:n.-93+33T>C
ENST00000565334.5:c.*714+33T>C ENSP00000456028.1:n.*714+33T>C
ENST00000614547.4:c.1246+33T>C ENSP00000479381.1:n.1246+33T>C
NM_001795.3:c.1591+33T>C NP_001786.2:n.1591+33T>C
XM_011522801.1:c.1618+33T>C XP_011521103.1:n.1618+33T>C
NM_001795.4:c.1591+33T>C NP_001786.2:n.1591+33T>C
XM_011522801.2:c.1618+33T>C XP_011521103.1:n.1618+33T>C
XM_024450133.1:c.1618+33T>C XP_024305901.1:n.1618+33T>C
NM_001795.5:c.1591+33T>C MANE Select NP_001786.2:n.1591+33T>C