Canonical Allele Identifier: CA207671078

Gene: PCDH15

Linked Data

• dbSNP Id: rs769467239
• gnomAD v2: 10-56848943-G-A
• gnomAD v3: 10-55089183-G-A
• gnomAD v4: 10-55089183-G-A
• MyVariant Identifiers: chr10:g.56848943G>A (hg19) ; chr10:g.55089183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.55089183G>A , CM000672.2:g.55089183G>A	GRCh38
NC_000010.10:g.56848943G>A , CM000672.1:g.56848943G>A	GRCh37
NC_000010.9:g.56518949G>A	NCBI36
NG_009191.3:g.545000C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000458638.1:c.-80+77393C>T	ENSP00000394465.1:n.-80+77393C>T
ENST00000613346.4:c.-80+77393C>T	ENSP00000481211.1:n.-80+77393C>T
NM_001354404.1:c.-80+77393C>T	NP_001341333.1:n.-80+77393C>T
XM_017016573.2:c.-157+77393C>T	XP_016872062.1:n.-157+77393C>T
NM_001354404.2:c.-80+77393C>T	NP_001341333.1:n.-80+77393C>T