Canonical Allele Identifier: CA376515713
Gene: PCDH15 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806601T>G , CM000672.2:g.53806601T>G GRCh38
NC_000010.10:g.55566361T>G , CM000672.1:g.55566361T>G GRCh37
NC_000010.9:g.55236367T>G NCBI36
NG_009191.2:g.999691A>C
NG_009191.3:g.1827582A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4060A>C
ENST00000644397.2:c.5201A>C MANE Select ENSP00000495195.1:p.His1734Pro
ENST00000373965.6:c.5012A>C ENSP00000363076.3:p.His1671Pro
ENST00000414778.5:c.5009A>C ENSP00000410304.2:p.His1670Pro
ENST00000495484.5:c.1229A>C ENSP00000480780.1:p.His410Pro
ENST00000614895.4:c.5024A>C ENSP00000478512.1:p.His1675Pro
ENST00000616114.4:c.5006A>C ENSP00000483745.1:p.His1669Pro
ENST00000618301.4:c.1361A>C ENSP00000482780.1:p.His454Pro
ENST00000621708.4:c.5027A>C ENSP00000484454.1:p.His1676Pro
NM_001142771.1:c.5027A>C NP_001136243.1:p.His1676Pro
NM_001142772.1:c.5012A>C NP_001136244.1:p.His1671Pro
NM_001354420.1:c.5006A>C NP_001341349.1:p.His1669Pro
NM_001354429.1:c.5135A>C NP_001341358.1:p.His1712Pro
XR_001747192.2:n.11493A>C
XR_001747193.2:n.11484A>C
NM_001142771.2:c.5027A>C NP_001136243.1:p.His1676Pro
NM_001142772.2:c.5012A>C NP_001136244.1:p.His1671Pro
NM_001354420.2:c.5006A>C NP_001341349.1:p.His1669Pro
NM_001354429.2:c.5135A>C NP_001341358.1:p.His1712Pro
NM_001384140.1:c.5201A>C MANE Select NP_001371069.1:p.His1734Pro