Canonical Allele Identifier: CA376515722

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566364A>T (hg19) ; chr10:g.53806604A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806604A>T , CM000672.2:g.53806604A>T	GRCh38
NC_000010.10:g.55566364A>T , CM000672.1:g.55566364A>T	GRCh37
NC_000010.9:g.55236370A>T	NCBI36
NG_009191.2:g.999688T>A
NG_009191.3:g.1827579T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4057T>A
ENST00000644397.2:c.5198T>A MANE Select	ENSP00000495195.1:p.Leu1733His
ENST00000373965.6:c.5009T>A	ENSP00000363076.3:p.Leu1670His
ENST00000414778.5:c.5006T>A	ENSP00000410304.2:p.Leu1669His
ENST00000495484.5:c.1226T>A	ENSP00000480780.1:p.Leu409His
ENST00000614895.4:c.5021T>A	ENSP00000478512.1:p.Leu1674His
ENST00000616114.4:c.5003T>A	ENSP00000483745.1:p.Leu1668His
ENST00000618301.4:c.1358T>A	ENSP00000482780.1:p.Leu453His
ENST00000621708.4:c.5024T>A	ENSP00000484454.1:p.Leu1675His
NM_001142771.1:c.5024T>A	NP_001136243.1:p.Leu1675His
NM_001142772.1:c.5009T>A	NP_001136244.1:p.Leu1670His
NM_001354420.1:c.5003T>A	NP_001341349.1:p.Leu1668His
NM_001354429.1:c.5132T>A	NP_001341358.1:p.Leu1711His
XR_001747192.2:n.11490T>A
XR_001747193.2:n.11481T>A
NM_001142771.2:c.5024T>A	NP_001136243.1:p.Leu1675His
NM_001142772.2:c.5009T>A	NP_001136244.1:p.Leu1670His
NM_001354420.2:c.5003T>A	NP_001341349.1:p.Leu1668His
NM_001354429.2:c.5132T>A	NP_001341358.1:p.Leu1711His
NM_001384140.1:c.5198T>A MANE Select	NP_001371069.1:p.Leu1733His