Canonical Allele Identifier: CA515620325

Gene: PTCHD1

Linked Data

• MyVariant Identifiers: chrX:g.23411648T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393531T>G , CM000685.2:g.23393531T>G	GRCh38
NC_000023.10:g.23411648T>G , CM000685.1:g.23411648T>G	GRCh37
NC_000023.9:g.23321569T>G	NCBI36
NG_021300.1:g.63664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379361.5:c.2013T>G MANE Select	ENSP00000368666.4:p.Leu671=
ENST00000379361.4:c.2013T>G	ENSP00000368666.4:p.Leu671=
NM_173495.2:c.2013T>G	NP_775766.2:p.Leu671=
XM_011545449.1:c.2013T>G	XP_011543751.1:p.Leu671=
XM_011545449.3:c.2013T>G	XP_011543751.1:p.Leu671=
NM_173495.3:c.2013T>G MANE Select	NP_775766.2:p.Leu671=