Canonical Allele Identifier: CA207195055

Gene: PCDH15

Linked Data

• dbSNP Id: rs1036805365
• gnomAD v3: 10-53806220-G-A
• gnomAD v4: 10-53806220-G-A
• MyVariant Identifiers: chr10:g.55565980G>A (hg19) ; chr10:g.53806220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806220G>A , CM000672.2:g.53806220G>A	GRCh38
NC_000010.10:g.55565980G>A , CM000672.1:g.55565980G>A	GRCh37
NC_000010.9:g.55235986G>A	NCBI36
NG_009191.2:g.1000072C>T
NG_009191.3:g.1827963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*359C>T MANE Select	ENSP00000495195.1:n.*359C>T
ENST00000373965.6:c.*359C>T	ENSP00000363076.3:n.*359C>T
ENST00000414778.5:c.*359C>T	ENSP00000410304.2:n.*359C>T
ENST00000614895.4:c.*359C>T	ENSP00000478512.1:n.*359C>T
ENST00000616114.4:c.*359C>T	ENSP00000483745.1:n.*359C>T
NM_001142771.1:c.*359C>T	NP_001136243.1:n.*359C>T
NM_001142772.1:c.*359C>T	NP_001136244.1:n.*359C>T
NM_001354420.1:c.*359C>T	NP_001341349.1:n.*359C>T
NM_001354429.1:c.*359C>T	NP_001341358.1:n.*359C>T
XR_001747192.2:n.11874C>T
XR_001747193.2:n.11865C>T
NM_001142771.2:c.*359C>T	NP_001136243.1:n.*359C>T
NM_001142772.2:c.*359C>T	NP_001136244.1:n.*359C>T
NM_001354420.2:c.*359C>T	NP_001341349.1:n.*359C>T
NM_001354429.2:c.*359C>T	NP_001341358.1:n.*359C>T
NM_001384140.1:c.*359C>T MANE Select	NP_001371069.1:n.*359C>T