Canonical Allele Identifier: CA376515798
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806636A>T , CM000672.2:g.53806636A>T GRCh38
NC_000010.10:g.55566396A>T , CM000672.1:g.55566396A>T GRCh37
NC_000010.9:g.55236402A>T NCBI36
NG_009191.2:g.999656T>A
NG_009191.3:g.1827547T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4025T>A
ENST00000644397.2:c.5166T>A MANE Select ENSP00000495195.1:p.Asp1722Glu
ENST00000373965.6:c.4977T>A ENSP00000363076.3:p.Asp1659Glu
ENST00000414778.5:c.4974T>A ENSP00000410304.2:p.Asp1658Glu
ENST00000495484.5:c.1194T>A ENSP00000480780.1:p.Asp398Glu
ENST00000614895.4:c.4989T>A ENSP00000478512.1:p.Asp1663Glu
ENST00000616114.4:c.4971T>A ENSP00000483745.1:p.Asp1657Glu
ENST00000618301.4:c.1326T>A ENSP00000482780.1:p.Asp442Glu
ENST00000621708.4:c.4992T>A ENSP00000484454.1:p.Asp1664Glu
NM_001142771.1:c.4992T>A NP_001136243.1:p.Asp1664Glu
NM_001142772.1:c.4977T>A NP_001136244.1:p.Asp1659Glu
NM_001354420.1:c.4971T>A NP_001341349.1:p.Asp1657Glu
NM_001354429.1:c.5100T>A NP_001341358.1:p.Asp1700Glu
XR_001747192.2:n.11458T>A
XR_001747193.2:n.11449T>A
NM_001142771.2:c.4992T>A NP_001136243.1:p.Asp1664Glu
NM_001142772.2:c.4977T>A NP_001136244.1:p.Asp1659Glu
NM_001354420.2:c.4971T>A NP_001341349.1:p.Asp1657Glu
NM_001354429.2:c.5100T>A NP_001341358.1:p.Asp1700Glu
NM_001384140.1:c.5166T>A MANE Select NP_001371069.1:p.Asp1722Glu