Canonical Allele Identifier: CA10576789

Gene: PCDH15

Linked Data

• ClinVar Variation Id: 229130
• ClinVar RCV Id: RCV000215680
• dbSNP Id: rs876657950
• gnomAD v4: 10-53806565-T-C
• MyVariant Identifiers: chr10:g.55566325T>C (hg19) ; chr10:g.53806565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806565T>C , CM000672.2:g.53806565T>C	GRCh38
NC_000010.10:g.55566325T>C , CM000672.1:g.55566325T>C	GRCh37
NC_000010.9:g.55236331T>C	NCBI36
NG_009191.2:g.999727A>G
NG_009191.3:g.1827618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4096A>G
ENST00000644397.2:c.*14A>G MANE Select	ENSP00000495195.1:n.*14A>G
ENST00000373965.6:c.*14A>G	ENSP00000363076.3:n.*14A>G
ENST00000414778.5:c.*14A>G	ENSP00000410304.2:n.*14A>G
ENST00000495484.5:c.*14A>G	ENSP00000480780.1:n.*14A>G
ENST00000614895.4:c.*14A>G	ENSP00000478512.1:n.*14A>G
ENST00000616114.4:c.*14A>G	ENSP00000483745.1:n.*14A>G
ENST00000618301.4:c.1397A>G	ENSP00000482780.1:n.1397A>G
ENST00000621708.4:c.*14A>G	ENSP00000484454.1:n.*14A>G
NM_001142771.1:c.*14A>G	NP_001136243.1:n.*14A>G
NM_001142772.1:c.*14A>G	NP_001136244.1:n.*14A>G
NM_001354420.1:c.*14A>G	NP_001341349.1:n.*14A>G
NM_001354429.1:c.*14A>G	NP_001341358.1:n.*14A>G
XR_001747192.2:n.11529A>G
XR_001747193.2:n.11520A>G
NM_001142771.2:c.*14A>G	NP_001136243.1:n.*14A>G
NM_001142772.2:c.*14A>G	NP_001136244.1:n.*14A>G
NM_001354420.2:c.*14A>G	NP_001341349.1:n.*14A>G
NM_001354429.2:c.*14A>G	NP_001341358.1:n.*14A>G
NM_001384140.1:c.*14A>G MANE Select	NP_001371069.1:n.*14A>G