Canonical Allele Identifier: CA5504537

Gene: PCDH15

Linked Data

• dbSNP Id: rs373018461
• ExAC: 10:55566526 C / T
• gnomAD v3: 10-53806766-C-T
• gnomAD v4: 10-53806766-C-T
• MyVariant Identifiers: chr10:g.55566526C>T (hg19) ; chr10:g.53806766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806766C>T , CM000672.2:g.53806766C>T	GRCh38
NC_000010.10:g.55566526C>T , CM000672.1:g.55566526C>T	GRCh37
NC_000010.9:g.55236532C>T	NCBI36
NG_009191.2:g.999526G>A
NG_009191.3:g.1827417G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3895G>A
ENST00000644397.2:c.5036G>A MANE Select	ENSP00000495195.1:p.Gly1679Glu
ENST00000373965.6:c.4847G>A	ENSP00000363076.3:p.Gly1616Glu
ENST00000414778.5:c.4844G>A	ENSP00000410304.2:p.Gly1615Glu
ENST00000495484.5:c.1064G>A	ENSP00000480780.1:p.Gly355Glu
ENST00000614895.4:c.4859G>A	ENSP00000478512.1:p.Gly1620Glu
ENST00000616114.4:c.4841G>A	ENSP00000483745.1:p.Gly1614Glu
ENST00000618301.4:c.1196G>A	ENSP00000482780.1:p.Gly399Glu
ENST00000621708.4:c.4862G>A	ENSP00000484454.1:p.Gly1621Glu
NM_001142771.1:c.4862G>A	NP_001136243.1:p.Gly1621Glu
NM_001142772.1:c.4847G>A	NP_001136244.1:p.Gly1616Glu
NM_001354420.1:c.4841G>A	NP_001341349.1:p.Gly1614Glu
NM_001354429.1:c.4970G>A	NP_001341358.1:p.Gly1657Glu
XR_001747192.2:n.11328G>A
XR_001747193.2:n.11319G>A
NM_001142771.2:c.4862G>A	NP_001136243.1:p.Gly1621Glu
NM_001142772.2:c.4847G>A	NP_001136244.1:p.Gly1616Glu
NM_001354420.2:c.4841G>A	NP_001341349.1:p.Gly1614Glu
NM_001354429.2:c.4970G>A	NP_001341358.1:p.Gly1657Glu
NM_001384140.1:c.5036G>A MANE Select	NP_001371069.1:p.Gly1679Glu