Canonical Allele Identifier: CA396194308

Gene: CDH5

Linked Data

• gnomAD v4: 16-66398525-A-G
• MyVariant Identifiers: chr16:g.66432428A>G (hg19) ; chr16:g.66398525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398525A>G , CM000678.2:g.66398525A>G	GRCh38
NC_000016.9:g.66432428A>G , CM000678.1:g.66432428A>G	GRCh37
NC_000016.8:g.64989929A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1555A>G MANE Select	ENSP00000344115.3:p.Asn519Asp
ENST00000649567.1:c.1555A>G	ENSP00000497290.1:p.Asn519Asp
ENST00000341529.7:c.1555A>G	ENSP00000344115.3:p.Asn519Asp
ENST00000539168.1:c.-129A>G	ENSP00000461880.1:n.-129A>G
ENST00000565334.5:c.*678A>G	ENSP00000456028.1:n.*678A>G
ENST00000614547.4:c.1210A>G	ENSP00000479381.1:p.Asn404Asp
NM_001795.3:c.1555A>G	NP_001786.2:p.Asn519Asp
XM_011522801.1:c.1582A>G	XP_011521103.1:p.Asn528Asp
NM_001795.4:c.1555A>G	NP_001786.2:p.Asn519Asp
XM_011522801.2:c.1582A>G	XP_011521103.1:p.Asn528Asp
XM_024450133.1:c.1582A>G	XP_024305901.1:p.Asn528Asp
NM_001795.5:c.1555A>G MANE Select	NP_001786.2:p.Asn519Asp