Canonical Allele Identifier: CA412579739

Gene: PTCHD1

Linked Data

• dbSNP Id: rs746729251
• gnomAD v2: X-23397801-A-G
• gnomAD v4: X-23379684-A-G
• MyVariant Identifiers: chrX:g.23397801A>G (hg19) ; chrX:g.23379684A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000379361.5:c.445A>G MANE Select	ENSP00000368666.4:p.Ile149Val
ENST00000379361.4:c.445A>G	ENSP00000368666.4:p.Ile149Val
ENST00000456522.1:c.159-12847A>G
ENST00000616022.1:c.130A>G	ENSP00000478663.1:p.Ile44Val
NM_173495.2:c.445A>G	NP_775766.2:p.Ile149Val
XM_011545449.1:c.445A>G	XP_011543751.1:p.Ile149Val
XM_011545449.3:c.445A>G	XP_011543751.1:p.Ile149Val
NM_173495.3:c.445A>G MANE Select	NP_775766.2:p.Ile149Val