Canonical Allele Identifier: CA207206
Gene: PTCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211969
ClinVar RCV Id: RCV000193610
dbSNP Id: rs372665873
ExAC: X:23411666 G / T
gnomAD v2: X-23411666-G-T
gnomAD v3: X-23393549-G-T
gnomAD v4: X-23393549-G-T
MyVariant Identifiers: chrX:g.23411666G>T (hg19) chrX:g.23393549G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393549G>T , CM000685.2:g.23393549G>T GRCh38
NC_000023.10:g.23411666G>T , CM000685.1:g.23411666G>T GRCh37
NC_000023.9:g.23321587G>T NCBI36
NG_021300.1:g.63682G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2031G>T MANE Select ENSP00000368666.4:p.Val677=
ENST00000379361.4:c.2031G>T ENSP00000368666.4:p.Val677=
NM_173495.2:c.2031G>T NP_775766.2:p.Val677=
XM_011545449.1:c.2031G>T XP_011543751.1:p.Val677=
XM_011545449.3:c.2031G>T XP_011543751.1:p.Val677=
NM_173495.3:c.2031G>T MANE Select NP_775766.2:p.Val677=
Search 100 bp 5'
Search 100 bp 3'