Canonical Allele Identifier: CA593495504

Gene: PCDH15

Linked Data

• dbSNP Id: rs1165507229
• gnomAD v2: 10-55566034-G-T
• gnomAD v3: 10-53806274-G-T
• gnomAD v4: 10-53806274-G-T
• MyVariant Identifiers: chr10:g.55566034G>T (hg19) ; chr10:g.53806274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806274G>T , CM000672.2:g.53806274G>T	GRCh38
NC_000010.10:g.55566034G>T , CM000672.1:g.55566034G>T	GRCh37
NC_000010.9:g.55236040G>T	NCBI36
NG_009191.2:g.1000018C>A
NG_009191.3:g.1827909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*305C>A MANE Select	ENSP00000495195.1:n.*305C>A
ENST00000373965.6:c.*305C>A	ENSP00000363076.3:n.*305C>A
ENST00000414778.5:c.*305C>A	ENSP00000410304.2:n.*305C>A
ENST00000614895.4:c.*305C>A	ENSP00000478512.1:n.*305C>A
ENST00000616114.4:c.*305C>A	ENSP00000483745.1:n.*305C>A
NM_001142771.1:c.*305C>A	NP_001136243.1:n.*305C>A
NM_001142772.1:c.*305C>A	NP_001136244.1:n.*305C>A
NM_001354420.1:c.*305C>A	NP_001341349.1:n.*305C>A
NM_001354429.1:c.*305C>A	NP_001341358.1:n.*305C>A
XR_001747192.2:n.11820C>A
XR_001747193.2:n.11811C>A
NM_001142771.2:c.*305C>A	NP_001136243.1:n.*305C>A
NM_001142772.2:c.*305C>A	NP_001136244.1:n.*305C>A
NM_001354420.2:c.*305C>A	NP_001341349.1:n.*305C>A
NM_001354429.2:c.*305C>A	NP_001341358.1:n.*305C>A
NM_001384140.1:c.*305C>A MANE Select	NP_001371069.1:n.*305C>A