Canonical Allele Identifier: CA282186664

Gene: CDH5

Linked Data

• dbSNP Id: rs991923457
• gnomAD v4: 16-66398529-C-A
• MyVariant Identifiers: chr16:g.66432432C>A (hg19) ; chr16:g.66398529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398529C>A , CM000678.2:g.66398529C>A	GRCh38
NC_000016.9:g.66432432C>A , CM000678.1:g.66432432C>A	GRCh37
NC_000016.8:g.64989933C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1559C>A MANE Select	ENSP00000344115.3:p.Thr520Asn
ENST00000649567.1:c.1559C>A	ENSP00000497290.1:p.Thr520Asn
ENST00000341529.7:c.1559C>A	ENSP00000344115.3:p.Thr520Asn
ENST00000539168.1:c.-125C>A	ENSP00000461880.1:n.-125C>A
ENST00000565334.5:c.*682C>A	ENSP00000456028.1:n.*682C>A
ENST00000614547.4:c.1214C>A	ENSP00000479381.1:p.Thr405Asn
NM_001795.3:c.1559C>A	NP_001786.2:p.Thr520Asn
XM_011522801.1:c.1586C>A	XP_011521103.1:p.Thr529Asn
NM_001795.4:c.1559C>A	NP_001786.2:p.Thr520Asn
XM_011522801.2:c.1586C>A	XP_011521103.1:p.Thr529Asn
XM_024450133.1:c.1586C>A	XP_024305901.1:p.Thr529Asn
NM_001795.5:c.1559C>A MANE Select	NP_001786.2:p.Thr520Asn