Canonical Allele Identifier: CA396194226

Gene: CDH5

Linked Data

• MyVariant Identifiers: chr16:g.66432408T>G (hg19) ; chr16:g.66398505T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398505T>G , CM000678.2:g.66398505T>G	GRCh38
NC_000016.9:g.66432408T>G , CM000678.1:g.66432408T>G	GRCh37
NC_000016.8:g.64989909T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1535T>G MANE Select	ENSP00000344115.3:p.Val512Gly
ENST00000649567.1:c.1535T>G	ENSP00000497290.1:p.Val512Gly
ENST00000341529.7:c.1535T>G	ENSP00000344115.3:p.Val512Gly
ENST00000539168.1:c.-149T>G	ENSP00000461880.1:n.-149T>G
ENST00000565334.5:c.*658T>G	ENSP00000456028.1:n.*658T>G
ENST00000614547.4:c.1190T>G	ENSP00000479381.1:p.Val397Gly
NM_001795.3:c.1535T>G	NP_001786.2:p.Val512Gly
XM_011522801.1:c.1562T>G	XP_011521103.1:p.Val521Gly
NM_001795.4:c.1535T>G	NP_001786.2:p.Val512Gly
XM_011522801.2:c.1562T>G	XP_011521103.1:p.Val521Gly
XM_024450133.1:c.1562T>G	XP_024305901.1:p.Val521Gly
NM_001795.5:c.1535T>G MANE Select	NP_001786.2:p.Val512Gly