Canonical Allele Identifier: CA5504548

Gene: PCDH15

Linked Data

• dbSNP Id: rs765996066
• ExAC: 10:55566557 T / C
• gnomAD v2: 10-55566557-T-C
• gnomAD v3: 10-53806797-T-C
• gnomAD v4: 10-53806797-T-C
• MyVariant Identifiers: chr10:g.55566557T>C (hg19) ; chr10:g.53806797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806797T>C , CM000672.2:g.53806797T>C	GRCh38
NC_000010.10:g.55566557T>C , CM000672.1:g.55566557T>C	GRCh37
NC_000010.9:g.55236563T>C	NCBI36
NG_009191.2:g.999495A>G
NG_009191.3:g.1827386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3864A>G
ENST00000644397.2:c.5005A>G MANE Select	ENSP00000495195.1:p.Thr1669Ala
ENST00000373965.6:c.4816A>G	ENSP00000363076.3:p.Thr1606Ala
ENST00000414778.5:c.4813A>G	ENSP00000410304.2:p.Thr1605Ala
ENST00000495484.5:c.1033A>G	ENSP00000480780.1:p.Thr345Ala
ENST00000614895.4:c.4828A>G	ENSP00000478512.1:p.Thr1610Ala
ENST00000616114.4:c.4810A>G	ENSP00000483745.1:p.Thr1604Ala
ENST00000618301.4:c.1165A>G	ENSP00000482780.1:p.Thr389Ala
ENST00000621708.4:c.4831A>G	ENSP00000484454.1:p.Thr1611Ala
NM_001142771.1:c.4831A>G	NP_001136243.1:p.Thr1611Ala
NM_001142772.1:c.4816A>G	NP_001136244.1:p.Thr1606Ala
NM_001354420.1:c.4810A>G	NP_001341349.1:p.Thr1604Ala
NM_001354429.1:c.4939A>G	NP_001341358.1:p.Thr1647Ala
XR_001747192.2:n.11297A>G
XR_001747193.2:n.11288A>G
NM_001142771.2:c.4831A>G	NP_001136243.1:p.Thr1611Ala
NM_001142772.2:c.4816A>G	NP_001136244.1:p.Thr1606Ala
NM_001354420.2:c.4810A>G	NP_001341349.1:p.Thr1604Ala
NM_001354429.2:c.4939A>G	NP_001341358.1:p.Thr1647Ala
NM_001384140.1:c.5005A>G MANE Select	NP_001371069.1:p.Thr1669Ala