Canonical Allele Identifier: CA376515813

Gene: PCDH15

Linked Data

• dbSNP Id: rs1387609945
• gnomAD v4: 10-53806643-G-C
• MyVariant Identifiers: chr10:g.55566403G>C (hg19) ; chr10:g.53806643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806643G>C , CM000672.2:g.53806643G>C	GRCh38
NC_000010.10:g.55566403G>C , CM000672.1:g.55566403G>C	GRCh37
NC_000010.9:g.55236409G>C	NCBI36
NG_009191.2:g.999649C>G
NG_009191.3:g.1827540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4018C>G
ENST00000644397.2:c.5159C>G MANE Select	ENSP00000495195.1:p.Ser1720Cys
ENST00000373965.6:c.4970C>G	ENSP00000363076.3:p.Ser1657Cys
ENST00000414778.5:c.4967C>G	ENSP00000410304.2:p.Ser1656Cys
ENST00000495484.5:c.1187C>G	ENSP00000480780.1:p.Ser396Cys
ENST00000614895.4:c.4982C>G	ENSP00000478512.1:p.Ser1661Cys
ENST00000616114.4:c.4964C>G	ENSP00000483745.1:p.Ser1655Cys
ENST00000618301.4:c.1319C>G	ENSP00000482780.1:p.Ser440Cys
ENST00000621708.4:c.4985C>G	ENSP00000484454.1:p.Ser1662Cys
NM_001142771.1:c.4985C>G	NP_001136243.1:p.Ser1662Cys
NM_001142772.1:c.4970C>G	NP_001136244.1:p.Ser1657Cys
NM_001354420.1:c.4964C>G	NP_001341349.1:p.Ser1655Cys
NM_001354429.1:c.5093C>G	NP_001341358.1:p.Ser1698Cys
XR_001747192.2:n.11451C>G
XR_001747193.2:n.11442C>G
NM_001142771.2:c.4985C>G	NP_001136243.1:p.Ser1662Cys
NM_001142772.2:c.4970C>G	NP_001136244.1:p.Ser1657Cys
NM_001354420.2:c.4964C>G	NP_001341349.1:p.Ser1655Cys
NM_001354429.2:c.5093C>G	NP_001341358.1:p.Ser1698Cys
NM_001384140.1:c.5159C>G MANE Select	NP_001371069.1:p.Ser1720Cys