Canonical Allele Identifier: CA376516076
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806713C>A , CM000672.2:g.53806713C>A GRCh38
NC_000010.10:g.55566473C>A , CM000672.1:g.55566473C>A GRCh37
NC_000010.9:g.55236479C>A NCBI36
NG_009191.2:g.999579G>T
NG_009191.3:g.1827470G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.3948G>T
ENST00000644397.2:c.5089G>T MANE Select ENSP00000495195.1:p.Glu1697Ter
ENST00000373965.6:c.4900G>T ENSP00000363076.3:p.Glu1634Ter
ENST00000414778.5:c.4897G>T ENSP00000410304.2:p.Glu1633Ter
ENST00000495484.5:c.1117G>T ENSP00000480780.1:p.Glu373Ter
ENST00000614895.4:c.4912G>T ENSP00000478512.1:p.Glu1638Ter
ENST00000616114.4:c.4894G>T ENSP00000483745.1:p.Glu1632Ter
ENST00000618301.4:c.1249G>T ENSP00000482780.1:p.Glu417Ter
ENST00000621708.4:c.4915G>T ENSP00000484454.1:p.Glu1639Ter
NM_001142771.1:c.4915G>T NP_001136243.1:p.Glu1639Ter
NM_001142772.1:c.4900G>T NP_001136244.1:p.Glu1634Ter
NM_001354420.1:c.4894G>T NP_001341349.1:p.Glu1632Ter
NM_001354429.1:c.5023G>T NP_001341358.1:p.Glu1675Ter
XR_001747192.2:n.11381G>T
XR_001747193.2:n.11372G>T
NM_001142771.2:c.4915G>T NP_001136243.1:p.Glu1639Ter
NM_001142772.2:c.4900G>T NP_001136244.1:p.Glu1634Ter
NM_001354420.2:c.4894G>T NP_001341349.1:p.Glu1632Ter
NM_001354429.2:c.5023G>T NP_001341358.1:p.Glu1675Ter
NM_001384140.1:c.5089G>T MANE Select NP_001371069.1:p.Glu1697Ter