Canonical Allele Identifier: CA376515841

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806653-G-T
• MyVariant Identifiers: chr10:g.55566413G>T (hg19) ; chr10:g.53806653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806653G>T , CM000672.2:g.53806653G>T	GRCh38
NC_000010.10:g.55566413G>T , CM000672.1:g.55566413G>T	GRCh37
NC_000010.9:g.55236419G>T	NCBI36
NG_009191.2:g.999639C>A
NG_009191.3:g.1827530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4008C>A
ENST00000644397.2:c.5149C>A MANE Select	ENSP00000495195.1:p.His1717Asn
ENST00000373965.6:c.4960C>A	ENSP00000363076.3:p.His1654Asn
ENST00000414778.5:c.4957C>A	ENSP00000410304.2:p.His1653Asn
ENST00000495484.5:c.1177C>A	ENSP00000480780.1:p.His393Asn
ENST00000614895.4:c.4972C>A	ENSP00000478512.1:p.His1658Asn
ENST00000616114.4:c.4954C>A	ENSP00000483745.1:p.His1652Asn
ENST00000618301.4:c.1309C>A	ENSP00000482780.1:p.His437Asn
ENST00000621708.4:c.4975C>A	ENSP00000484454.1:p.His1659Asn
NM_001142771.1:c.4975C>A	NP_001136243.1:p.His1659Asn
NM_001142772.1:c.4960C>A	NP_001136244.1:p.His1654Asn
NM_001354420.1:c.4954C>A	NP_001341349.1:p.His1652Asn
NM_001354429.1:c.5083C>A	NP_001341358.1:p.His1695Asn
XR_001747192.2:n.11441C>A
XR_001747193.2:n.11432C>A
NM_001142771.2:c.4975C>A	NP_001136243.1:p.His1659Asn
NM_001142772.2:c.4960C>A	NP_001136244.1:p.His1654Asn
NM_001354420.2:c.4954C>A	NP_001341349.1:p.His1652Asn
NM_001354429.2:c.5083C>A	NP_001341358.1:p.His1695Asn
NM_001384140.1:c.5149C>A MANE Select	NP_001371069.1:p.His1717Asn