Canonical Allele Identifier: CA412586980

Gene: PTCHD1

Linked Data

• MyVariant Identifiers: chrX:g.23411629T>G (hg19) ; chrX:g.23393512T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23393512T>G , CM000685.2:g.23393512T>G	GRCh38
NC_000023.10:g.23411629T>G , CM000685.1:g.23411629T>G	GRCh37
NC_000023.9:g.23321550T>G	NCBI36
NG_021300.1:g.63645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379361.5:c.1994T>G MANE Select	ENSP00000368666.4:p.Leu665Trp
ENST00000379361.4:c.1994T>G	ENSP00000368666.4:p.Leu665Trp
NM_173495.2:c.1994T>G	NP_775766.2:p.Leu665Trp
XM_011545449.1:c.1994T>G	XP_011543751.1:p.Leu665Trp
XM_011545449.3:c.1994T>G	XP_011543751.1:p.Leu665Trp
NM_173495.3:c.1994T>G MANE Select	NP_775766.2:p.Leu665Trp