Canonical Allele Identifier: CA412579751
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23397807G>A (hg19) chrX:g.23379690G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379690G>A , CM000685.2:g.23379690G>A GRCh38
NC_000023.10:g.23397807G>A , CM000685.1:g.23397807G>A GRCh37
NC_000023.9:g.23307728G>A NCBI36
NG_021300.1:g.49823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.451G>A MANE Select ENSP00000368666.4:p.Asp151Asn
ENST00000379361.4:c.451G>A ENSP00000368666.4:p.Asp151Asn
ENST00000456522.1:c.159-12841G>A
ENST00000616022.1:c.136G>A ENSP00000478663.1:p.Asp46Asn
NM_173495.2:c.451G>A NP_775766.2:p.Asp151Asn
XM_011545449.1:c.451G>A XP_011543751.1:p.Asp151Asn
XM_011545449.3:c.451G>A XP_011543751.1:p.Asp151Asn
NM_173495.3:c.451G>A MANE Select NP_775766.2:p.Asp151Asn
Search 100 bp 5'
Search 100 bp 3'