Canonical Allele Identifier: CA376516042

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806705-C-A
• MyVariant Identifiers: chr10:g.55566465C>A (hg19) ; chr10:g.53806705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806705C>A , CM000672.2:g.53806705C>A	GRCh38
NC_000010.10:g.55566465C>A , CM000672.1:g.55566465C>A	GRCh37
NC_000010.9:g.55236471C>A	NCBI36
NG_009191.2:g.999587G>T
NG_009191.3:g.1827478G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642496.1:c.3956G>T
ENST00000644397.2:c.5097G>T MANE Select	ENSP00000495195.1:p.Glu1699Asp
ENST00000373965.6:c.4908G>T	ENSP00000363076.3:p.Glu1636Asp
ENST00000414778.5:c.4905G>T	ENSP00000410304.2:p.Glu1635Asp
ENST00000495484.5:c.1125G>T	ENSP00000480780.1:p.Glu375Asp
ENST00000614895.4:c.4920G>T	ENSP00000478512.1:p.Glu1640Asp
ENST00000616114.4:c.4902G>T	ENSP00000483745.1:p.Glu1634Asp
ENST00000618301.4:c.1257G>T	ENSP00000482780.1:p.Glu419Asp
ENST00000621708.4:c.4923G>T	ENSP00000484454.1:p.Glu1641Asp
NM_001142771.1:c.4923G>T	NP_001136243.1:p.Glu1641Asp
NM_001142772.1:c.4908G>T	NP_001136244.1:p.Glu1636Asp
NM_001354420.1:c.4902G>T	NP_001341349.1:p.Glu1634Asp
NM_001354429.1:c.5031G>T	NP_001341358.1:p.Glu1677Asp
XR_001747192.2:n.11389G>T
XR_001747193.2:n.11380G>T
NM_001142771.2:c.4923G>T	NP_001136243.1:p.Glu1641Asp
NM_001142772.2:c.4908G>T	NP_001136244.1:p.Glu1636Asp
NM_001354420.2:c.4902G>T	NP_001341349.1:p.Glu1634Asp
NM_001354429.2:c.5031G>T	NP_001341358.1:p.Glu1677Asp
NM_001384140.1:c.5097G>T MANE Select	NP_001371069.1:p.Glu1699Asp