Canonical Allele Identifier: CA376516140
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806732G>T , CM000672.2:g.53806732G>T GRCh38
NC_000010.10:g.55566492G>T , CM000672.1:g.55566492G>T GRCh37
NC_000010.9:g.55236498G>T NCBI36
NG_009191.2:g.999560C>A
NG_009191.3:g.1827451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3929C>A
ENST00000644397.2:c.5070C>A MANE Select ENSP00000495195.1:p.Asn1690Lys
ENST00000373965.6:c.4881C>A ENSP00000363076.3:p.Asn1627Lys
ENST00000414778.5:c.4878C>A ENSP00000410304.2:p.Asn1626Lys
ENST00000495484.5:c.1098C>A ENSP00000480780.1:p.Asn366Lys
ENST00000614895.4:c.4893C>A ENSP00000478512.1:p.Asn1631Lys
ENST00000616114.4:c.4875C>A ENSP00000483745.1:p.Asn1625Lys
ENST00000618301.4:c.1230C>A ENSP00000482780.1:p.Asn410Lys
ENST00000621708.4:c.4896C>A ENSP00000484454.1:p.Asn1632Lys
NM_001142771.1:c.4896C>A NP_001136243.1:p.Asn1632Lys
NM_001142772.1:c.4881C>A NP_001136244.1:p.Asn1627Lys
NM_001354420.1:c.4875C>A NP_001341349.1:p.Asn1625Lys
NM_001354429.1:c.5004C>A NP_001341358.1:p.Asn1668Lys
XR_001747192.2:n.11362C>A
XR_001747193.2:n.11353C>A
NM_001142771.2:c.4896C>A NP_001136243.1:p.Asn1632Lys
NM_001142772.2:c.4881C>A NP_001136244.1:p.Asn1627Lys
NM_001354420.2:c.4875C>A NP_001341349.1:p.Asn1625Lys
NM_001354429.2:c.5004C>A NP_001341358.1:p.Asn1668Lys
NM_001384140.1:c.5070C>A MANE Select NP_001371069.1:p.Asn1690Lys