Canonical Allele Identifier: CA376515878
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806662G>T , CM000672.2:g.53806662G>T GRCh38
NC_000010.10:g.55566422G>T , CM000672.1:g.55566422G>T GRCh37
NC_000010.9:g.55236428G>T NCBI36
NG_009191.2:g.999630C>A
NG_009191.3:g.1827521C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3999C>A
ENST00000644397.2:c.5140C>A MANE Select ENSP00000495195.1:p.His1714Asn
ENST00000373965.6:c.4951C>A ENSP00000363076.3:p.His1651Asn
ENST00000414778.5:c.4948C>A ENSP00000410304.2:p.His1650Asn
ENST00000495484.5:c.1168C>A ENSP00000480780.1:p.His390Asn
ENST00000614895.4:c.4963C>A ENSP00000478512.1:p.His1655Asn
ENST00000616114.4:c.4945C>A ENSP00000483745.1:p.His1649Asn
ENST00000618301.4:c.1300C>A ENSP00000482780.1:p.His434Asn
ENST00000621708.4:c.4966C>A ENSP00000484454.1:p.His1656Asn
NM_001142771.1:c.4966C>A NP_001136243.1:p.His1656Asn
NM_001142772.1:c.4951C>A NP_001136244.1:p.His1651Asn
NM_001354420.1:c.4945C>A NP_001341349.1:p.His1649Asn
NM_001354429.1:c.5074C>A NP_001341358.1:p.His1692Asn
XR_001747192.2:n.11432C>A
XR_001747193.2:n.11423C>A
NM_001142771.2:c.4966C>A NP_001136243.1:p.His1656Asn
NM_001142772.2:c.4951C>A NP_001136244.1:p.His1651Asn
NM_001354420.2:c.4945C>A NP_001341349.1:p.His1649Asn
NM_001354429.2:c.5074C>A NP_001341358.1:p.His1692Asn
NM_001384140.1:c.5140C>A MANE Select NP_001371069.1:p.His1714Asn