Canonical Allele Identifier: CA396194276

Gene: CDH5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001795.5:c.1550T>A MANE Select	NP_001786.2:p.Ile517Asn
ENST00000341529.8:c.1550T>A MANE Select	ENSP00000344115.3:p.Ile517Asn
NM_001795.3:c.1550T>A	NP_001786.2:p.Ile517Asn
NM_001795.4:c.1550T>A	NP_001786.2:p.Ile517Asn
ENST00000341529.7:c.1550T>A	ENSP00000344115.3:p.Ile517Asn
ENST00000539168.1:c.-134T>A	ENSP00000461880.1:n.-134T>A
ENST00000565334.5:c.*673T>A	ENSP00000456028.1:n.*673T>A
ENST00000614547.4:c.1205T>A	ENSP00000479381.1:p.Ile402Asn
ENST00000649567.1:c.1550T>A	ENSP00000497290.1:p.Ile517Asn
XM_011522801.1:c.1577T>A	XP_011521103.1:p.Ile526Asn
XM_011522801.2:c.1577T>A	XP_011521103.1:p.Ile526Asn
XM_024450133.1:c.1577T>A	XP_024305901.1:p.Ile526Asn