Canonical Allele Identifier: CA5504502

Gene: PCDH15

Linked Data

• dbSNP Id: rs750805092
• ExAC: 10:55566420 A / G
• gnomAD v2: 10-55566420-A-G
• gnomAD v3: 10-53806660-A-G
• gnomAD v4: 10-53806660-A-G
• COSMIC: COSM381799
• MyVariant Identifiers: chr10:g.55566420A>G (hg19) ; chr10:g.53806660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806660A>G , CM000672.2:g.53806660A>G	GRCh38
NC_000010.10:g.55566420A>G , CM000672.1:g.55566420A>G	GRCh37
NC_000010.9:g.55236426A>G	NCBI36
NG_009191.2:g.999632T>C
NG_009191.3:g.1827523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4001T>C
ENST00000644397.2:c.5142T>C MANE Select	ENSP00000495195.1:p.His1714=
ENST00000373965.6:c.4953T>C	ENSP00000363076.3:p.His1651=
ENST00000414778.5:c.4950T>C	ENSP00000410304.2:p.His1650=
ENST00000495484.5:c.1170T>C	ENSP00000480780.1:p.His390=
ENST00000614895.4:c.4965T>C	ENSP00000478512.1:p.His1655=
ENST00000616114.4:c.4947T>C	ENSP00000483745.1:p.His1649=
ENST00000618301.4:c.1302T>C	ENSP00000482780.1:p.His434=
ENST00000621708.4:c.4968T>C	ENSP00000484454.1:p.His1656=
NM_001142771.1:c.4968T>C	NP_001136243.1:p.His1656=
NM_001142772.1:c.4953T>C	NP_001136244.1:p.His1651=
NM_001354420.1:c.4947T>C	NP_001341349.1:p.His1649=
NM_001354429.1:c.5076T>C	NP_001341358.1:p.His1692=
XR_001747192.2:n.11434T>C
XR_001747193.2:n.11425T>C
NM_001142771.2:c.4968T>C	NP_001136243.1:p.His1656=
NM_001142772.2:c.4953T>C	NP_001136244.1:p.His1651=
NM_001354420.2:c.4947T>C	NP_001341349.1:p.His1649=
NM_001354429.2:c.5076T>C	NP_001341358.1:p.His1692=
NM_001384140.1:c.5142T>C MANE Select	NP_001371069.1:p.His1714=