Canonical Allele Identifier: CA376515927

Gene: PCDH15

Linked Data

• dbSNP Id: rs1228774728
• gnomAD v2: 10-55566435-C-A
• gnomAD v4: 10-53806675-C-A
• MyVariant Identifiers: chr10:g.55566435C>A (hg19) ; chr10:g.53806675C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806675C>A , CM000672.2:g.53806675C>A	GRCh38
NC_000010.10:g.55566435C>A , CM000672.1:g.55566435C>A	GRCh37
NC_000010.9:g.55236441C>A	NCBI36
NG_009191.2:g.999617G>T
NG_009191.3:g.1827508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.3986G>T
ENST00000644397.2:c.5127G>T MANE Select	ENSP00000495195.1:p.Glu1709Asp
ENST00000373965.6:c.4938G>T	ENSP00000363076.3:p.Glu1646Asp
ENST00000414778.5:c.4935G>T	ENSP00000410304.2:p.Glu1645Asp
ENST00000495484.5:c.1155G>T	ENSP00000480780.1:p.Glu385Asp
ENST00000614895.4:c.4950G>T	ENSP00000478512.1:p.Glu1650Asp
ENST00000616114.4:c.4932G>T	ENSP00000483745.1:p.Glu1644Asp
ENST00000618301.4:c.1287G>T	ENSP00000482780.1:p.Glu429Asp
ENST00000621708.4:c.4953G>T	ENSP00000484454.1:p.Glu1651Asp
NM_001142771.1:c.4953G>T	NP_001136243.1:p.Glu1651Asp
NM_001142772.1:c.4938G>T	NP_001136244.1:p.Glu1646Asp
NM_001354420.1:c.4932G>T	NP_001341349.1:p.Glu1644Asp
NM_001354429.1:c.5061G>T	NP_001341358.1:p.Glu1687Asp
XR_001747192.2:n.11419G>T
XR_001747193.2:n.11410G>T
NM_001142771.2:c.4953G>T	NP_001136243.1:p.Glu1651Asp
NM_001142772.2:c.4938G>T	NP_001136244.1:p.Glu1646Asp
NM_001354420.2:c.4932G>T	NP_001341349.1:p.Glu1644Asp
NM_001354429.2:c.5061G>T	NP_001341358.1:p.Glu1687Asp
NM_001384140.1:c.5127G>T MANE Select	NP_001371069.1:p.Glu1709Asp