Canonical Allele Identifier: CA376515849

Gene: PCDH15

Linked Data

• gnomAD v4: 10-53806655-T-A
• MyVariant Identifiers: chr10:g.55566415T>A (hg19) ; chr10:g.53806655T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806655T>A , CM000672.2:g.53806655T>A	GRCh38
NC_000010.10:g.55566415T>A , CM000672.1:g.55566415T>A	GRCh37
NC_000010.9:g.55236421T>A	NCBI36
NG_009191.2:g.999637A>T
NG_009191.3:g.1827528A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4006A>T
ENST00000644397.2:c.5147A>T MANE Select	ENSP00000495195.1:p.Asp1716Val
ENST00000373965.6:c.4958A>T	ENSP00000363076.3:p.Asp1653Val
ENST00000414778.5:c.4955A>T	ENSP00000410304.2:p.Asp1652Val
ENST00000495484.5:c.1175A>T	ENSP00000480780.1:p.Asp392Val
ENST00000614895.4:c.4970A>T	ENSP00000478512.1:p.Asp1657Val
ENST00000616114.4:c.4952A>T	ENSP00000483745.1:p.Asp1651Val
ENST00000618301.4:c.1307A>T	ENSP00000482780.1:p.Asp436Val
ENST00000621708.4:c.4973A>T	ENSP00000484454.1:p.Asp1658Val
NM_001142771.1:c.4973A>T	NP_001136243.1:p.Asp1658Val
NM_001142772.1:c.4958A>T	NP_001136244.1:p.Asp1653Val
NM_001354420.1:c.4952A>T	NP_001341349.1:p.Asp1651Val
NM_001354429.1:c.5081A>T	NP_001341358.1:p.Asp1694Val
XR_001747192.2:n.11439A>T
XR_001747193.2:n.11430A>T
NM_001142771.2:c.4973A>T	NP_001136243.1:p.Asp1658Val
NM_001142772.2:c.4958A>T	NP_001136244.1:p.Asp1653Val
NM_001354420.2:c.4952A>T	NP_001341349.1:p.Asp1651Val
NM_001354429.2:c.5081A>T	NP_001341358.1:p.Asp1694Val
NM_001384140.1:c.5147A>T MANE Select	NP_001371069.1:p.Asp1716Val