Canonical Allele Identifier: CA412587055
Gene: PTCHD1 HGNC NCBI

Linked Data

gnomAD v4: X-23393547-G-A
MyVariant Identifiers: chrX:g.23411664G>A (hg19) chrX:g.23393547G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393547G>A , CM000685.2:g.23393547G>A GRCh38
NC_000023.10:g.23411664G>A , CM000685.1:g.23411664G>A GRCh37
NC_000023.9:g.23321585G>A NCBI36
NG_021300.1:g.63680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2029G>A MANE Select ENSP00000368666.4:p.Val677Met
ENST00000379361.4:c.2029G>A ENSP00000368666.4:p.Val677Met
NM_173495.2:c.2029G>A NP_775766.2:p.Val677Met
XM_011545449.1:c.2029G>A XP_011543751.1:p.Val677Met
XM_011545449.3:c.2029G>A XP_011543751.1:p.Val677Met
NM_173495.3:c.2029G>A MANE Select NP_775766.2:p.Val677Met
Search 100 bp 5'
Search 100 bp 3'