Canonical Allele Identifier: CA2788034389

Gene: PCDH15

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.53806304A>G , CM000672.2:g.53806304A>G	GRCh38
NC_000010.10:g.55566064A>G , CM000672.1:g.55566064A>G	GRCh37
NC_000010.9:g.55236070A>G	NCBI36
NG_009191.2:g.999988T>C
NG_009191.3:g.1827879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644397.2:c.*275T>C MANE Select	ENSP00000495195.1:n.*275T>C
ENST00000373965.6:c.*275T>C	ENSP00000363076.3:n.*275T>C
ENST00000414778.5:c.*275T>C	ENSP00000410304.2:n.*275T>C
ENST00000614895.4:c.*275T>C	ENSP00000478512.1:n.*275T>C
ENST00000616114.4:c.*275T>C	ENSP00000483745.1:n.*275T>C
NM_001142771.1:c.*275T>C	NP_001136243.1:n.*275T>C
NM_001142772.1:c.*275T>C	NP_001136244.1:n.*275T>C
NM_001354420.1:c.*275T>C	NP_001341349.1:n.*275T>C
NM_001354429.1:c.*275T>C	NP_001341358.1:n.*275T>C
XR_001747192.2:n.11790T>C
XR_001747193.2:n.11781T>C
NM_001142771.2:c.*275T>C	NP_001136243.1:n.*275T>C
NM_001142772.2:c.*275T>C	NP_001136244.1:n.*275T>C
NM_001354420.2:c.*275T>C	NP_001341349.1:n.*275T>C
NM_001354429.2:c.*275T>C	NP_001341358.1:n.*275T>C
NM_001384140.1:c.*275T>C MANE Select	NP_001371069.1:n.*275T>C