Canonical Allele Identifier: CA376515719

Gene: PCDH15

Linked Data

• dbSNP Id: rs1427141746
• gnomAD v3: 10-53806602-G-A
• gnomAD v4: 10-53806602-G-A
• MyVariant Identifiers: chr10:g.55566362G>A (hg19) ; chr10:g.53806602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806602G>A , CM000672.2:g.53806602G>A	GRCh38
NC_000010.10:g.55566362G>A , CM000672.1:g.55566362G>A	GRCh37
NC_000010.9:g.55236368G>A	NCBI36
NG_009191.2:g.999690C>T
NG_009191.3:g.1827581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4059C>T
ENST00000644397.2:c.5200C>T MANE Select	ENSP00000495195.1:p.His1734Tyr
ENST00000373965.6:c.5011C>T	ENSP00000363076.3:p.His1671Tyr
ENST00000414778.5:c.5008C>T	ENSP00000410304.2:p.His1670Tyr
ENST00000495484.5:c.1228C>T	ENSP00000480780.1:p.His410Tyr
ENST00000614895.4:c.5023C>T	ENSP00000478512.1:p.His1675Tyr
ENST00000616114.4:c.5005C>T	ENSP00000483745.1:p.His1669Tyr
ENST00000618301.4:c.1360C>T	ENSP00000482780.1:p.His454Tyr
ENST00000621708.4:c.5026C>T	ENSP00000484454.1:p.His1676Tyr
NM_001142771.1:c.5026C>T	NP_001136243.1:p.His1676Tyr
NM_001142772.1:c.5011C>T	NP_001136244.1:p.His1671Tyr
NM_001354420.1:c.5005C>T	NP_001341349.1:p.His1669Tyr
NM_001354429.1:c.5134C>T	NP_001341358.1:p.His1712Tyr
XR_001747192.2:n.11492C>T
XR_001747193.2:n.11483C>T
NM_001142771.2:c.5026C>T	NP_001136243.1:p.His1676Tyr
NM_001142772.2:c.5011C>T	NP_001136244.1:p.His1671Tyr
NM_001354420.2:c.5005C>T	NP_001341349.1:p.His1669Tyr
NM_001354429.2:c.5134C>T	NP_001341358.1:p.His1712Tyr
NM_001384140.1:c.5200C>T MANE Select	NP_001371069.1:p.His1734Tyr