Canonical Allele Identifier: CA282186655
Gene: CDH5 HGNC NCBI

Linked Data

dbSNP Id: rs3826229

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398521C>G , CM000678.2:g.66398521C>G GRCh38
NC_000016.9:g.66432424C>G , CM000678.1:g.66432424C>G GRCh37
NC_000016.8:g.64989925C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341529.8:c.1551C>G MANE Select ENSP00000344115.3:p.Ile517Met
ENST00000649567.1:c.1551C>G ENSP00000497290.1:p.Ile517Met
ENST00000341529.7:c.1551C>G ENSP00000344115.3:p.Ile517Met
ENST00000539168.1:c.-133C>G ENSP00000461880.1:n.-133C>G
ENST00000565334.5:c.*674C>G ENSP00000456028.1:n.*674C>G
ENST00000614547.4:c.1206C>G ENSP00000479381.1:p.Ile402Met
NM_001795.3:c.1551C>G NP_001786.2:p.Ile517Met
XM_011522801.1:c.1578C>G XP_011521103.1:p.Ile526Met
NM_001795.4:c.1551C>G NP_001786.2:p.Ile517Met
XM_011522801.2:c.1578C>G XP_011521103.1:p.Ile526Met
XM_024450133.1:c.1578C>G XP_024305901.1:p.Ile526Met
NM_001795.5:c.1551C>G MANE Select NP_001786.2:p.Ile517Met