Canonical Allele Identifier: CA2419636298

Gene: PTCHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23379684A= , CM000685.2:g.23379684A=	GRCh38
NC_000023.10:g.23397801A= , CM000685.1:g.23397801A=	GRCh37
NC_000023.9:g.23307722A=	NCBI36
NG_021300.1:g.49817A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.445A= MANE Select	ENSP00000368666.4:p.Ile149=
ENST00000379361.4:c.445A=	ENSP00000368666.4:p.Ile149=
ENST00000456522.1:c.159-12847A=
ENST00000616022.1:c.130A=	ENSP00000478663.1:p.Ile44=
NM_173495.2:c.445A=	NP_775766.2:p.Ile149=
XM_011545449.1:c.445A=	XP_011543751.1:p.Ile149=
XM_011545449.3:c.445A=	XP_011543751.1:p.Ile149=
NM_173495.3:c.445A= MANE Select	NP_775766.2:p.Ile149=