Canonical Allele Identifier: CA515619474
Gene: PTCHD1 HGNC NCBI

Linked Data

gnomAD v4: X-23379689-G-A
MyVariant Identifiers: chrX:g.23397806G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379689G>A , CM000685.2:g.23379689G>A GRCh38
NC_000023.10:g.23397806G>A , CM000685.1:g.23397806G>A GRCh37
NC_000023.9:g.23307727G>A NCBI36
NG_021300.1:g.49822G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.450G>A MANE Select ENSP00000368666.4:p.Val150=
ENST00000379361.4:c.450G>A ENSP00000368666.4:p.Val150=
ENST00000456522.1:c.159-12842G>A
ENST00000616022.1:c.135G>A ENSP00000478663.1:p.Val45=
NM_173495.2:c.450G>A NP_775766.2:p.Val150=
XM_011545449.1:c.450G>A XP_011543751.1:p.Val150=
XM_011545449.3:c.450G>A XP_011543751.1:p.Val150=
NM_173495.3:c.450G>A MANE Select NP_775766.2:p.Val150=
Search 100 bp 5'
Search 100 bp 3'