Canonical Allele Identifier: CA376515805

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806639-A-T
• MyVariant Identifiers: chr10:g.55566399A>T (hg19) ; chr10:g.53806639A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806639A>T , CM000672.2:g.53806639A>T	GRCh38
NC_000010.10:g.55566399A>T , CM000672.1:g.55566399A>T	GRCh37
NC_000010.9:g.55236405A>T	NCBI36
NG_009191.2:g.999653T>A
NG_009191.3:g.1827544T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4022T>A
ENST00000644397.2:c.5163T>A MANE Select	ENSP00000495195.1:p.Asp1721Glu
ENST00000373965.6:c.4974T>A	ENSP00000363076.3:p.Asp1658Glu
ENST00000414778.5:c.4971T>A	ENSP00000410304.2:p.Asp1657Glu
ENST00000495484.5:c.1191T>A	ENSP00000480780.1:p.Asp397Glu
ENST00000614895.4:c.4986T>A	ENSP00000478512.1:p.Asp1662Glu
ENST00000616114.4:c.4968T>A	ENSP00000483745.1:p.Asp1656Glu
ENST00000618301.4:c.1323T>A	ENSP00000482780.1:p.Asp441Glu
ENST00000621708.4:c.4989T>A	ENSP00000484454.1:p.Asp1663Glu
NM_001142771.1:c.4989T>A	NP_001136243.1:p.Asp1663Glu
NM_001142772.1:c.4974T>A	NP_001136244.1:p.Asp1658Glu
NM_001354420.1:c.4968T>A	NP_001341349.1:p.Asp1656Glu
NM_001354429.1:c.5097T>A	NP_001341358.1:p.Asp1699Glu
XR_001747192.2:n.11455T>A
XR_001747193.2:n.11446T>A
NM_001142771.2:c.4989T>A	NP_001136243.1:p.Asp1663Glu
NM_001142772.2:c.4974T>A	NP_001136244.1:p.Asp1658Glu
NM_001354420.2:c.4968T>A	NP_001341349.1:p.Asp1656Glu
NM_001354429.2:c.5097T>A	NP_001341358.1:p.Asp1699Glu
NM_001384140.1:c.5163T>A MANE Select	NP_001371069.1:p.Asp1721Glu