Canonical Allele Identifier: CA376516035
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806703G>T , CM000672.2:g.53806703G>T GRCh38
NC_000010.10:g.55566463G>T , CM000672.1:g.55566463G>T GRCh37
NC_000010.9:g.55236469G>T NCBI36
NG_009191.2:g.999589C>A
NG_009191.3:g.1827480C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.3958C>A
ENST00000644397.2:c.5099C>A MANE Select ENSP00000495195.1:p.Ser1700Tyr
ENST00000373965.6:c.4910C>A ENSP00000363076.3:p.Ser1637Tyr
ENST00000414778.5:c.4907C>A ENSP00000410304.2:p.Ser1636Tyr
ENST00000495484.5:c.1127C>A ENSP00000480780.1:p.Ser376Tyr
ENST00000614895.4:c.4922C>A ENSP00000478512.1:p.Ser1641Tyr
ENST00000616114.4:c.4904C>A ENSP00000483745.1:p.Ser1635Tyr
ENST00000618301.4:c.1259C>A ENSP00000482780.1:p.Ser420Tyr
ENST00000621708.4:c.4925C>A ENSP00000484454.1:p.Ser1642Tyr
NM_001142771.1:c.4925C>A NP_001136243.1:p.Ser1642Tyr
NM_001142772.1:c.4910C>A NP_001136244.1:p.Ser1637Tyr
NM_001354420.1:c.4904C>A NP_001341349.1:p.Ser1635Tyr
NM_001354429.1:c.5033C>A NP_001341358.1:p.Ser1678Tyr
XR_001747192.2:n.11391C>A
XR_001747193.2:n.11382C>A
NM_001142771.2:c.4925C>A NP_001136243.1:p.Ser1642Tyr
NM_001142772.2:c.4910C>A NP_001136244.1:p.Ser1637Tyr
NM_001354420.2:c.4904C>A NP_001341349.1:p.Ser1635Tyr
NM_001354429.2:c.5033C>A NP_001341358.1:p.Ser1678Tyr
NM_001384140.1:c.5099C>A MANE Select NP_001371069.1:p.Ser1700Tyr