Canonical Allele Identifier: CA376516004
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806694T>A , CM000672.2:g.53806694T>A GRCh38
NC_000010.10:g.55566454T>A , CM000672.1:g.55566454T>A GRCh37
NC_000010.9:g.55236460T>A NCBI36
NG_009191.2:g.999598A>T
NG_009191.3:g.1827489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.3967A>T
ENST00000644397.2:c.5108A>T MANE Select ENSP00000495195.1:p.Asp1703Val
ENST00000373965.6:c.4919A>T ENSP00000363076.3:p.Asp1640Val
ENST00000414778.5:c.4916A>T ENSP00000410304.2:p.Asp1639Val
ENST00000495484.5:c.1136A>T ENSP00000480780.1:p.Asp379Val
ENST00000614895.4:c.4931A>T ENSP00000478512.1:p.Asp1644Val
ENST00000616114.4:c.4913A>T ENSP00000483745.1:p.Asp1638Val
ENST00000618301.4:c.1268A>T ENSP00000482780.1:p.Asp423Val
ENST00000621708.4:c.4934A>T ENSP00000484454.1:p.Asp1645Val
NM_001142771.1:c.4934A>T NP_001136243.1:p.Asp1645Val
NM_001142772.1:c.4919A>T NP_001136244.1:p.Asp1640Val
NM_001354420.1:c.4913A>T NP_001341349.1:p.Asp1638Val
NM_001354429.1:c.5042A>T NP_001341358.1:p.Asp1681Val
XR_001747192.2:n.11400A>T
XR_001747193.2:n.11391A>T
NM_001142771.2:c.4934A>T NP_001136243.1:p.Asp1645Val
NM_001142772.2:c.4919A>T NP_001136244.1:p.Asp1640Val
NM_001354420.2:c.4913A>T NP_001341349.1:p.Asp1638Val
NM_001354429.2:c.5042A>T NP_001341358.1:p.Asp1681Val
NM_001384140.1:c.5108A>T MANE Select NP_001371069.1:p.Asp1703Val