Canonical Allele Identifier: CA2609218111
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806209G>T , CM000672.2:g.53806209G>T GRCh38
NC_000010.10:g.55565969G>T , CM000672.1:g.55565969G>T GRCh37
NC_000010.9:g.55235975G>T NCBI36
NG_009191.2:g.1000083C>A
NG_009191.3:g.1827974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644397.2:c.*370C>A MANE Select ENSP00000495195.1:n.*370C>A
ENST00000373965.6:c.*370C>A ENSP00000363076.3:n.*370C>A
ENST00000414778.5:c.*370C>A ENSP00000410304.2:n.*370C>A
ENST00000614895.4:c.*370C>A ENSP00000478512.1:n.*370C>A
ENST00000616114.4:c.*370C>A ENSP00000483745.1:n.*370C>A
NM_001142771.1:c.*370C>A NP_001136243.1:n.*370C>A
NM_001142772.1:c.*370C>A NP_001136244.1:n.*370C>A
NM_001354420.1:c.*370C>A NP_001341349.1:n.*370C>A
NM_001354429.1:c.*370C>A NP_001341358.1:n.*370C>A
XR_001747192.2:n.11885C>A
XR_001747193.2:n.11876C>A
NM_001142771.2:c.*370C>A NP_001136243.1:n.*370C>A
NM_001142772.2:c.*370C>A NP_001136244.1:n.*370C>A
NM_001354420.2:c.*370C>A NP_001341349.1:n.*370C>A
NM_001354429.2:c.*370C>A NP_001341358.1:n.*370C>A
NM_001384140.1:c.*370C>A MANE Select NP_001371069.1:n.*370C>A