Canonical Allele Identifier: CA412586971
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411625C>A (hg19) chrX:g.23393508C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393508C>A , CM000685.2:g.23393508C>A GRCh38
NC_000023.10:g.23411625C>A , CM000685.1:g.23411625C>A GRCh37
NC_000023.9:g.23321546C>A NCBI36
NG_021300.1:g.63641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.1990C>A MANE Select ENSP00000368666.4:p.Leu664Ile
ENST00000379361.4:c.1990C>A ENSP00000368666.4:p.Leu664Ile
NM_173495.2:c.1990C>A NP_775766.2:p.Leu664Ile
XM_011545449.1:c.1990C>A XP_011543751.1:p.Leu664Ile
XM_011545449.3:c.1990C>A XP_011543751.1:p.Leu664Ile
NM_173495.3:c.1990C>A MANE Select NP_775766.2:p.Leu664Ile
Search 100 bp 5'
Search 100 bp 3'