Canonical Allele Identifier: CA376515838

Gene: PCDH15

Linked Data

• dbSNP Id: rs1401540899
• gnomAD v3: 10-53806653-G-A
• gnomAD v4: 10-53806653-G-A
• MyVariant Identifiers: chr10:g.55566413G>A (hg19) ; chr10:g.53806653G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4008C>T
ENST00000644397.2:c.5149C>T MANE Select	ENSP00000495195.1:p.His1717Tyr
ENST00000373965.6:c.4960C>T	ENSP00000363076.3:p.His1654Tyr
ENST00000414778.5:c.4957C>T	ENSP00000410304.2:p.His1653Tyr
ENST00000495484.5:c.1177C>T	ENSP00000480780.1:p.His393Tyr
ENST00000614895.4:c.4972C>T	ENSP00000478512.1:p.His1658Tyr
ENST00000616114.4:c.4954C>T	ENSP00000483745.1:p.His1652Tyr
ENST00000618301.4:c.1309C>T	ENSP00000482780.1:p.His437Tyr
ENST00000621708.4:c.4975C>T	ENSP00000484454.1:p.His1659Tyr
NM_001142771.1:c.4975C>T	NP_001136243.1:p.His1659Tyr
NM_001142772.1:c.4960C>T	NP_001136244.1:p.His1654Tyr
NM_001354420.1:c.4954C>T	NP_001341349.1:p.His1652Tyr
NM_001354429.1:c.5083C>T	NP_001341358.1:p.His1695Tyr
XR_001747192.2:n.11441C>T
XR_001747193.2:n.11432C>T
NM_001142771.2:c.4975C>T	NP_001136243.1:p.His1659Tyr
NM_001142772.2:c.4960C>T	NP_001136244.1:p.His1654Tyr
NM_001354420.2:c.4954C>T	NP_001341349.1:p.His1652Tyr
NM_001354429.2:c.5083C>T	NP_001341358.1:p.His1695Tyr
NM_001384140.1:c.5149C>T MANE Select	NP_001371069.1:p.His1717Tyr