Canonical Allele Identifier: CA412586938
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411612A>C (hg19) chrX:g.23393495A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393495A>C , CM000685.2:g.23393495A>C GRCh38
NC_000023.10:g.23411612A>C , CM000685.1:g.23411612A>C GRCh37
NC_000023.9:g.23321533A>C NCBI36
NG_021300.1:g.63628A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.1977A>C MANE Select ENSP00000368666.4:p.Glu659Asp
ENST00000379361.4:c.1977A>C ENSP00000368666.4:p.Glu659Asp
NM_173495.2:c.1977A>C NP_775766.2:p.Glu659Asp
XM_011545449.1:c.1977A>C XP_011543751.1:p.Glu659Asp
XM_011545449.3:c.1977A>C XP_011543751.1:p.Glu659Asp
NM_173495.3:c.1977A>C MANE Select NP_775766.2:p.Glu659Asp
Search 100 bp 5'
Search 100 bp 3'