Canonical Allele Identifier: CA469545237
Gene: PCDH15 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.55566369G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.53806609G>A , CM000672.2:g.53806609G>A GRCh38
NC_000010.10:g.55566369G>A , CM000672.1:g.55566369G>A GRCh37
NC_000010.9:g.55236375G>A NCBI36
NG_009191.2:g.999683C>T
NG_009191.3:g.1827574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642496.1:c.4052C>T
ENST00000644397.2:c.5193C>T MANE Select ENSP00000495195.1:p.Asn1731=
ENST00000373965.6:c.5004C>T ENSP00000363076.3:p.Asn1668=
ENST00000414778.5:c.5001C>T ENSP00000410304.2:p.Asn1667=
ENST00000495484.5:c.1221C>T ENSP00000480780.1:p.Asn407=
ENST00000614895.4:c.5016C>T ENSP00000478512.1:p.Asn1672=
ENST00000616114.4:c.4998C>T ENSP00000483745.1:p.Asn1666=
ENST00000618301.4:c.1353C>T ENSP00000482780.1:p.Asn451=
ENST00000621708.4:c.5019C>T ENSP00000484454.1:p.Asn1673=
NM_001142771.1:c.5019C>T NP_001136243.1:p.Asn1673=
NM_001142772.1:c.5004C>T NP_001136244.1:p.Asn1668=
NM_001354420.1:c.4998C>T NP_001341349.1:p.Asn1666=
NM_001354429.1:c.5127C>T NP_001341358.1:p.Asn1709=
XR_001747192.2:n.11485C>T
XR_001747193.2:n.11476C>T
NM_001142771.2:c.5019C>T NP_001136243.1:p.Asn1673=
NM_001142772.2:c.5004C>T NP_001136244.1:p.Asn1668=
NM_001354420.2:c.4998C>T NP_001341349.1:p.Asn1666=
NM_001354429.2:c.5127C>T NP_001341358.1:p.Asn1709=
NM_001384140.1:c.5193C>T MANE Select NP_001371069.1:p.Asn1731=