Canonical Allele Identifier: CA207648944

Gene: PCDH15

Linked Data

• dbSNP Id: rs536273461
• gnomAD v2: 10-56661290-C-A
• gnomAD v3: 10-54901530-C-A
• gnomAD v4: 10-54901530-C-A
• MyVariant Identifiers: chr10:g.56661290C>A (hg19) ; chr10:g.54901530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.54901530C>A , CM000672.2:g.54901530C>A	GRCh38
NC_000010.10:g.56661290C>A , CM000672.1:g.56661290C>A	GRCh37
NC_000010.9:g.56331296C>A	NCBI36
NG_009191.3:g.732653G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000458638.1:c.-79-4030G>T	ENSP00000394465.1:n.-79-4030G>T
ENST00000613346.4:c.-79-4030G>T	ENSP00000481211.1:n.-79-4030G>T
NM_001354404.1:c.-79-4030G>T	NP_001341333.1:n.-79-4030G>T
XM_017016573.2:c.-79-4030G>T	XP_016872062.1:n.-79-4030G>T
NM_001354404.2:c.-79-4030G>T	NP_001341333.1:n.-79-4030G>T