Canonical Allele Identifier: CA396194429

Gene: CDH5

Linked Data

• MyVariant Identifiers: chr16:g.66432450T>A (hg19) ; chr16:g.66398547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398547T>A , CM000678.2:g.66398547T>A	GRCh38
NC_000016.9:g.66432450T>A , CM000678.1:g.66432450T>A	GRCh37
NC_000016.8:g.64989951T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341529.8:c.1577T>A MANE Select	ENSP00000344115.3:p.Leu526His
ENST00000649567.1:c.1577T>A	ENSP00000497290.1:p.Leu526His
ENST00000341529.7:c.1577T>A	ENSP00000344115.3:p.Leu526His
ENST00000539168.1:c.-107T>A	ENSP00000461880.1:n.-107T>A
ENST00000565334.5:c.*700T>A	ENSP00000456028.1:n.*700T>A
ENST00000614547.4:c.1232T>A	ENSP00000479381.1:p.Leu411His
NM_001795.3:c.1577T>A	NP_001786.2:p.Leu526His
XM_011522801.1:c.1604T>A	XP_011521103.1:p.Leu535His
NM_001795.4:c.1577T>A	NP_001786.2:p.Leu526His
XM_011522801.2:c.1604T>A	XP_011521103.1:p.Leu535His
XM_024450133.1:c.1604T>A	XP_024305901.1:p.Leu535His
NM_001795.5:c.1577T>A MANE Select	NP_001786.2:p.Leu526His