Canonical Allele Identifier: CA412579761
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23397811A>C (hg19) chrX:g.23379694A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379694A>C , CM000685.2:g.23379694A>C GRCh38
NC_000023.10:g.23397811A>C , CM000685.1:g.23397811A>C GRCh37
NC_000023.9:g.23307732A>C NCBI36
NG_021300.1:g.49827A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.455A>C MANE Select ENSP00000368666.4:p.Asp152Ala
ENST00000379361.4:c.455A>C ENSP00000368666.4:p.Asp152Ala
ENST00000456522.1:c.159-12837A>C
ENST00000616022.1:c.140A>C ENSP00000478663.1:p.Asp47Ala
NM_173495.2:c.455A>C NP_775766.2:p.Asp152Ala
XM_011545449.1:c.455A>C XP_011543751.1:p.Asp152Ala
XM_011545449.3:c.455A>C XP_011543751.1:p.Asp152Ala
NM_173495.3:c.455A>C MANE Select NP_775766.2:p.Asp152Ala
Search 100 bp 5'
Search 100 bp 3'