Canonical Allele Identifier: CA376515738
Gene: PCDH15 HGNC NCBI

Linked Data

dbSNP Id: rs1260280764

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806611T>C , CM000672.2:g.53806611T>C GRCh38
NC_000010.10:g.55566371T>C , CM000672.1:g.55566371T>C GRCh37
NC_000010.9:g.55236377T>C NCBI36
NG_009191.2:g.999681A>G
NG_009191.3:g.1827572A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642496.1:c.4050A>G
ENST00000644397.2:c.5191A>G MANE Select ENSP00000495195.1:p.Asn1731Asp
ENST00000373965.6:c.5002A>G ENSP00000363076.3:p.Asn1668Asp
ENST00000414778.5:c.4999A>G ENSP00000410304.2:p.Asn1667Asp
ENST00000495484.5:c.1219A>G ENSP00000480780.1:p.Asn407Asp
ENST00000614895.4:c.5014A>G ENSP00000478512.1:p.Asn1672Asp
ENST00000616114.4:c.4996A>G ENSP00000483745.1:p.Asn1666Asp
ENST00000618301.4:c.1351A>G ENSP00000482780.1:p.Asn451Asp
ENST00000621708.4:c.5017A>G ENSP00000484454.1:p.Asn1673Asp
NM_001142771.1:c.5017A>G NP_001136243.1:p.Asn1673Asp
NM_001142772.1:c.5002A>G NP_001136244.1:p.Asn1668Asp
NM_001354420.1:c.4996A>G NP_001341349.1:p.Asn1666Asp
NM_001354429.1:c.5125A>G NP_001341358.1:p.Asn1709Asp
XR_001747192.2:n.11483A>G
XR_001747193.2:n.11474A>G
NM_001142771.2:c.5017A>G NP_001136243.1:p.Asn1673Asp
NM_001142772.2:c.5002A>G NP_001136244.1:p.Asn1668Asp
NM_001354420.2:c.4996A>G NP_001341349.1:p.Asn1666Asp
NM_001354429.2:c.5125A>G NP_001341358.1:p.Asn1709Asp
NM_001384140.1:c.5191A>G MANE Select NP_001371069.1:p.Asn1731Asp