Canonical Allele Identifier: CA376515736
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806610T>G , CM000672.2:g.53806610T>G GRCh38
NC_000010.10:g.55566370T>G , CM000672.1:g.55566370T>G GRCh37
NC_000010.9:g.55236376T>G NCBI36
NG_009191.2:g.999682A>C
NG_009191.3:g.1827573A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.4051A>C
ENST00000644397.2:c.5192A>C MANE Select ENSP00000495195.1:p.Asn1731Thr
ENST00000373965.6:c.5003A>C ENSP00000363076.3:p.Asn1668Thr
ENST00000414778.5:c.5000A>C ENSP00000410304.2:p.Asn1667Thr
ENST00000495484.5:c.1220A>C ENSP00000480780.1:p.Asn407Thr
ENST00000614895.4:c.5015A>C ENSP00000478512.1:p.Asn1672Thr
ENST00000616114.4:c.4997A>C ENSP00000483745.1:p.Asn1666Thr
ENST00000618301.4:c.1352A>C ENSP00000482780.1:p.Asn451Thr
ENST00000621708.4:c.5018A>C ENSP00000484454.1:p.Asn1673Thr
NM_001142771.1:c.5018A>C NP_001136243.1:p.Asn1673Thr
NM_001142772.1:c.5003A>C NP_001136244.1:p.Asn1668Thr
NM_001354420.1:c.4997A>C NP_001341349.1:p.Asn1666Thr
NM_001354429.1:c.5126A>C NP_001341358.1:p.Asn1709Thr
XR_001747192.2:n.11484A>C
XR_001747193.2:n.11475A>C
NM_001142771.2:c.5018A>C NP_001136243.1:p.Asn1673Thr
NM_001142772.2:c.5003A>C NP_001136244.1:p.Asn1668Thr
NM_001354420.2:c.4997A>C NP_001341349.1:p.Asn1666Thr
NM_001354429.2:c.5126A>C NP_001341358.1:p.Asn1709Thr
NM_001384140.1:c.5192A>C MANE Select NP_001371069.1:p.Asn1731Thr