Canonical Allele Identifier: CA396194278
Gene: CDH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66398520T>G , CM000678.2:g.66398520T>G GRCh38
NC_000016.9:g.66432423T>G , CM000678.1:g.66432423T>G GRCh37
NC_000016.8:g.64989924T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000341529.8:c.1550T>G MANE Select ENSP00000344115.3:p.Ile517Ser
ENST00000649567.1:c.1550T>G ENSP00000497290.1:p.Ile517Ser
ENST00000341529.7:c.1550T>G ENSP00000344115.3:p.Ile517Ser
ENST00000539168.1:c.-134T>G ENSP00000461880.1:n.-134T>G
ENST00000565334.5:c.*673T>G ENSP00000456028.1:n.*673T>G
ENST00000614547.4:c.1205T>G ENSP00000479381.1:p.Ile402Ser
NM_001795.3:c.1550T>G NP_001786.2:p.Ile517Ser
XM_011522801.1:c.1577T>G XP_011521103.1:p.Ile526Ser
NM_001795.4:c.1550T>G NP_001786.2:p.Ile517Ser
XM_011522801.2:c.1577T>G XP_011521103.1:p.Ile526Ser
XM_024450133.1:c.1577T>G XP_024305901.1:p.Ile526Ser
NM_001795.5:c.1550T>G MANE Select NP_001786.2:p.Ile517Ser