Canonical Allele Identifier: CA412586916
Gene: PTCHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1569143326
gnomAD v2: X-23411608-G-A
gnomAD v4: X-23393491-G-A
MyVariant Identifiers: chrX:g.23411608G>A (hg19) chrX:g.23393491G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393491G>A , CM000685.2:g.23393491G>A GRCh38
NC_000023.10:g.23411608G>A , CM000685.1:g.23411608G>A GRCh37
NC_000023.9:g.23321529G>A NCBI36
NG_021300.1:g.63624G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.1973G>A MANE Select ENSP00000368666.4:p.Arg658Lys
ENST00000379361.4:c.1973G>A ENSP00000368666.4:p.Arg658Lys
NM_173495.2:c.1973G>A NP_775766.2:p.Arg658Lys
XM_011545449.1:c.1973G>A XP_011543751.1:p.Arg658Lys
XM_011545449.3:c.1973G>A XP_011543751.1:p.Arg658Lys
NM_173495.3:c.1973G>A MANE Select NP_775766.2:p.Arg658Lys
Search 100 bp 5'
Search 100 bp 3'