Canonical Allele Identifier: CA2609218296
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806518A>G , CM000672.2:g.53806518A>G GRCh38
NC_000010.10:g.55566278A>G , CM000672.1:g.55566278A>G GRCh37
NC_000010.9:g.55236284A>G NCBI36
NG_009191.2:g.999774T>C
NG_009191.3:g.1827665T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4143T>C
ENST00000644397.2:c.*61T>C MANE Select ENSP00000495195.1:n.*61T>C
ENST00000373965.6:c.*61T>C ENSP00000363076.3:n.*61T>C
ENST00000414778.5:c.*61T>C ENSP00000410304.2:n.*61T>C
ENST00000495484.5:c.*61T>C ENSP00000480780.1:n.*61T>C
ENST00000614895.4:c.*61T>C ENSP00000478512.1:n.*61T>C
ENST00000616114.4:c.*61T>C ENSP00000483745.1:n.*61T>C
ENST00000618301.4:c.1444T>C ENSP00000482780.1:n.1444T>C
ENST00000621708.4:c.*61T>C ENSP00000484454.1:n.*61T>C
NM_001142771.1:c.*61T>C NP_001136243.1:n.*61T>C
NM_001142772.1:c.*61T>C NP_001136244.1:n.*61T>C
NM_001354420.1:c.*61T>C NP_001341349.1:n.*61T>C
NM_001354429.1:c.*61T>C NP_001341358.1:n.*61T>C
XR_001747192.2:n.11576T>C
XR_001747193.2:n.11567T>C
NM_001142771.2:c.*61T>C NP_001136243.1:n.*61T>C
NM_001142772.2:c.*61T>C NP_001136244.1:n.*61T>C
NM_001354420.2:c.*61T>C NP_001341349.1:n.*61T>C
NM_001354429.2:c.*61T>C NP_001341358.1:n.*61T>C
NM_001384140.1:c.*61T>C MANE Select NP_001371069.1:n.*61T>C