Canonical Allele Identifier: CA593636717

Gene: PCDH15

Linked Data

• dbSNP Id: rs1462424303
• gnomAD v2: 10-56791006-A-G
• gnomAD v3: 10-55031246-A-G
• gnomAD v4: 10-55031246-A-G
• MyVariant Identifiers: chr10:g.56791006A>G (hg19) ; chr10:g.55031246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.55031246A>G , CM000672.2:g.55031246A>G	GRCh38
NC_000010.10:g.56791006A>G , CM000672.1:g.56791006A>G	GRCh37
NC_000010.9:g.56461012A>G	NCBI36
NG_009191.3:g.602937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458638.1:c.-79-133746T>C	ENSP00000394465.1:n.-79-133746T>C
ENST00000613346.4:c.-79-133746T>C	ENSP00000481211.1:n.-79-133746T>C
NM_001354404.1:c.-79-133746T>C	NP_001341333.1:n.-79-133746T>C
XM_017016573.2:c.-156-82645T>C	XP_016872062.1:n.-156-82645T>C
NM_001354404.2:c.-79-133746T>C	NP_001341333.1:n.-79-133746T>C