Canonical Allele Identifier: CA327634980
Gene: PTCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2485413
ClinVar RCV Id: RCV003219396 RCV003420608
dbSNP Id: rs753395256
gnomAD v2: X-23411622-G-C
gnomAD v4: X-23393505-G-C
MyVariant Identifiers: chrX:g.23411622G>C (hg19) chrX:g.23393505G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393505G>C , CM000685.2:g.23393505G>C GRCh38
NC_000023.10:g.23411622G>C , CM000685.1:g.23411622G>C GRCh37
NC_000023.9:g.23321543G>C NCBI36
NG_021300.1:g.63638G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.1987G>C MANE Select ENSP00000368666.4:p.Asp663His
ENST00000379361.4:c.1987G>C ENSP00000368666.4:p.Asp663His
NM_173495.2:c.1987G>C NP_775766.2:p.Asp663His
XM_011545449.1:c.1987G>C XP_011543751.1:p.Asp663His
XM_011545449.3:c.1987G>C XP_011543751.1:p.Asp663His
NM_173495.3:c.1987G>C MANE Select NP_775766.2:p.Asp663His
Search 100 bp 5'
Search 100 bp 3'