Canonical Allele Identifier: CA376515715
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806602G>T , CM000672.2:g.53806602G>T GRCh38
NC_000010.10:g.55566362G>T , CM000672.1:g.55566362G>T GRCh37
NC_000010.9:g.55236368G>T NCBI36
NG_009191.2:g.999690C>A
NG_009191.3:g.1827581C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4059C>A
ENST00000644397.2:c.5200C>A MANE Select ENSP00000495195.1:p.His1734Asn
ENST00000373965.6:c.5011C>A ENSP00000363076.3:p.His1671Asn
ENST00000414778.5:c.5008C>A ENSP00000410304.2:p.His1670Asn
ENST00000495484.5:c.1228C>A ENSP00000480780.1:p.His410Asn
ENST00000614895.4:c.5023C>A ENSP00000478512.1:p.His1675Asn
ENST00000616114.4:c.5005C>A ENSP00000483745.1:p.His1669Asn
ENST00000618301.4:c.1360C>A ENSP00000482780.1:p.His454Asn
ENST00000621708.4:c.5026C>A ENSP00000484454.1:p.His1676Asn
NM_001142771.1:c.5026C>A NP_001136243.1:p.His1676Asn
NM_001142772.1:c.5011C>A NP_001136244.1:p.His1671Asn
NM_001354420.1:c.5005C>A NP_001341349.1:p.His1669Asn
NM_001354429.1:c.5134C>A NP_001341358.1:p.His1712Asn
XR_001747192.2:n.11492C>A
XR_001747193.2:n.11483C>A
NM_001142771.2:c.5026C>A NP_001136243.1:p.His1676Asn
NM_001142772.2:c.5011C>A NP_001136244.1:p.His1671Asn
NM_001354420.2:c.5005C>A NP_001341349.1:p.His1669Asn
NM_001354429.2:c.5134C>A NP_001341358.1:p.His1712Asn
NM_001384140.1:c.5200C>A MANE Select NP_001371069.1:p.His1734Asn