Canonical Allele Identifier: CA376515755
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806619C>A , CM000672.2:g.53806619C>A GRCh38
NC_000010.10:g.55566379C>A , CM000672.1:g.55566379C>A GRCh37
NC_000010.9:g.55236385C>A NCBI36
NG_009191.2:g.999673G>T
NG_009191.3:g.1827564G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4042G>T
ENST00000644397.2:c.5183G>T MANE Select ENSP00000495195.1:p.Gly1728Val
ENST00000373965.6:c.4994G>T ENSP00000363076.3:p.Gly1665Val
ENST00000414778.5:c.4991G>T ENSP00000410304.2:p.Gly1664Val
ENST00000495484.5:c.1211G>T ENSP00000480780.1:p.Gly404Val
ENST00000614895.4:c.5006G>T ENSP00000478512.1:p.Gly1669Val
ENST00000616114.4:c.4988G>T ENSP00000483745.1:p.Gly1663Val
ENST00000618301.4:c.1343G>T ENSP00000482780.1:p.Gly448Val
ENST00000621708.4:c.5009G>T ENSP00000484454.1:p.Gly1670Val
NM_001142771.1:c.5009G>T NP_001136243.1:p.Gly1670Val
NM_001142772.1:c.4994G>T NP_001136244.1:p.Gly1665Val
NM_001354420.1:c.4988G>T NP_001341349.1:p.Gly1663Val
NM_001354429.1:c.5117G>T NP_001341358.1:p.Gly1706Val
XR_001747192.2:n.11475G>T
XR_001747193.2:n.11466G>T
NM_001142771.2:c.5009G>T NP_001136243.1:p.Gly1670Val
NM_001142772.2:c.4994G>T NP_001136244.1:p.Gly1665Val
NM_001354420.2:c.4988G>T NP_001341349.1:p.Gly1663Val
NM_001354429.2:c.5117G>T NP_001341358.1:p.Gly1706Val
NM_001384140.1:c.5183G>T MANE Select NP_001371069.1:p.Gly1728Val