Canonical Allele Identifier: CA396194329

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398531-G-A
• MyVariant Identifiers: chr16:g.66432434G>A (hg19) ; chr16:g.66398531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398531G>A , CM000678.2:g.66398531G>A	GRCh38
NC_000016.9:g.66432434G>A , CM000678.1:g.66432434G>A	GRCh37
NC_000016.8:g.64989935G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1561G>A MANE Select	ENSP00000344115.3:p.Glu521Lys
ENST00000649567.1:c.1561G>A	ENSP00000497290.1:p.Glu521Lys
ENST00000341529.7:c.1561G>A	ENSP00000344115.3:p.Glu521Lys
ENST00000539168.1:c.-123G>A	ENSP00000461880.1:n.-123G>A
ENST00000565334.5:c.*684G>A	ENSP00000456028.1:n.*684G>A
ENST00000614547.4:c.1216G>A	ENSP00000479381.1:p.Glu406Lys
NM_001795.3:c.1561G>A	NP_001786.2:p.Glu521Lys
XM_011522801.1:c.1588G>A	XP_011521103.1:p.Glu530Lys
NM_001795.4:c.1561G>A	NP_001786.2:p.Glu521Lys
XM_011522801.2:c.1588G>A	XP_011521103.1:p.Glu530Lys
XM_024450133.1:c.1588G>A	XP_024305901.1:p.Glu530Lys
NM_001795.5:c.1561G>A MANE Select	NP_001786.2:p.Glu521Lys