Canonical Allele Identifier: CA5504501

Gene: PCDH15

Linked Data

• dbSNP Id: rs764739250
• ExAC: 10:55566417 A / C
• gnomAD v2: 10-55566417-A-C
• gnomAD v4: 10-53806657-A-C
• MyVariant Identifiers: chr10:g.55566417A>C (hg19) ; chr10:g.53806657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806657A>C , CM000672.2:g.53806657A>C	GRCh38
NC_000010.10:g.55566417A>C , CM000672.1:g.55566417A>C	GRCh37
NC_000010.9:g.55236423A>C	NCBI36
NG_009191.2:g.999635T>G
NG_009191.3:g.1827526T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4004T>G
ENST00000644397.2:c.5145T>G MANE Select	ENSP00000495195.1:p.Ser1715Arg
ENST00000373965.6:c.4956T>G	ENSP00000363076.3:p.Ser1652Arg
ENST00000414778.5:c.4953T>G	ENSP00000410304.2:p.Ser1651Arg
ENST00000495484.5:c.1173T>G	ENSP00000480780.1:p.Ser391Arg
ENST00000614895.4:c.4968T>G	ENSP00000478512.1:p.Ser1656Arg
ENST00000616114.4:c.4950T>G	ENSP00000483745.1:p.Ser1650Arg
ENST00000618301.4:c.1305T>G	ENSP00000482780.1:p.Ser435Arg
ENST00000621708.4:c.4971T>G	ENSP00000484454.1:p.Ser1657Arg
NM_001142771.1:c.4971T>G	NP_001136243.1:p.Ser1657Arg
NM_001142772.1:c.4956T>G	NP_001136244.1:p.Ser1652Arg
NM_001354420.1:c.4950T>G	NP_001341349.1:p.Ser1650Arg
NM_001354429.1:c.5079T>G	NP_001341358.1:p.Ser1693Arg
XR_001747192.2:n.11437T>G
XR_001747193.2:n.11428T>G
NM_001142771.2:c.4971T>G	NP_001136243.1:p.Ser1657Arg
NM_001142772.2:c.4956T>G	NP_001136244.1:p.Ser1652Arg
NM_001354420.2:c.4950T>G	NP_001341349.1:p.Ser1650Arg
NM_001354429.2:c.5079T>G	NP_001341358.1:p.Ser1693Arg
NM_001384140.1:c.5145T>G MANE Select	NP_001371069.1:p.Ser1715Arg