Canonical Allele Identifier: CA412579736

Gene: PTCHD1

Linked Data

• MyVariant Identifiers: chrX:g.23397799G>T (hg19) ; chrX:g.23379682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.23379682G>T , CM000685.2:g.23379682G>T	GRCh38
NC_000023.10:g.23397799G>T , CM000685.1:g.23397799G>T	GRCh37
NC_000023.9:g.23307720G>T	NCBI36
NG_021300.1:g.49815G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.443G>T MANE Select	ENSP00000368666.4:p.Cys148Phe
ENST00000379361.4:c.443G>T	ENSP00000368666.4:p.Cys148Phe
ENST00000456522.1:c.159-12849G>T
ENST00000616022.1:c.128G>T	ENSP00000478663.1:p.Cys43Phe
NM_173495.2:c.443G>T	NP_775766.2:p.Cys148Phe
XM_011545449.1:c.443G>T	XP_011543751.1:p.Cys148Phe
XM_011545449.3:c.443G>T	XP_011543751.1:p.Cys148Phe
NM_173495.3:c.443G>T MANE Select	NP_775766.2:p.Cys148Phe