Canonical Allele Identifier: CA376515739

Gene: PCDH15

Linked Data

• MyVariant Identifiers: chr10:g.55566371T>G (hg19) ; chr10:g.53806611T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806611T>G , CM000672.2:g.53806611T>G	GRCh38
NC_000010.10:g.55566371T>G , CM000672.1:g.55566371T>G	GRCh37
NC_000010.9:g.55236377T>G	NCBI36
NG_009191.2:g.999681A>C
NG_009191.3:g.1827572A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642496.1:c.4050A>C
ENST00000644397.2:c.5191A>C MANE Select	ENSP00000495195.1:p.Asn1731His
ENST00000373965.6:c.5002A>C	ENSP00000363076.3:p.Asn1668His
ENST00000414778.5:c.4999A>C	ENSP00000410304.2:p.Asn1667His
ENST00000495484.5:c.1219A>C	ENSP00000480780.1:p.Asn407His
ENST00000614895.4:c.5014A>C	ENSP00000478512.1:p.Asn1672His
ENST00000616114.4:c.4996A>C	ENSP00000483745.1:p.Asn1666His
ENST00000618301.4:c.1351A>C	ENSP00000482780.1:p.Asn451His
ENST00000621708.4:c.5017A>C	ENSP00000484454.1:p.Asn1673His
NM_001142771.1:c.5017A>C	NP_001136243.1:p.Asn1673His
NM_001142772.1:c.5002A>C	NP_001136244.1:p.Asn1668His
NM_001354420.1:c.4996A>C	NP_001341349.1:p.Asn1666His
NM_001354429.1:c.5125A>C	NP_001341358.1:p.Asn1709His
XR_001747192.2:n.11483A>C
XR_001747193.2:n.11474A>C
NM_001142771.2:c.5017A>C	NP_001136243.1:p.Asn1673His
NM_001142772.2:c.5002A>C	NP_001136244.1:p.Asn1668His
NM_001354420.2:c.4996A>C	NP_001341349.1:p.Asn1666His
NM_001354429.2:c.5125A>C	NP_001341358.1:p.Asn1709His
NM_001384140.1:c.5191A>C MANE Select	NP_001371069.1:p.Asn1731His