Canonical Allele Identifier: CA412587058
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411665T>A (hg19) chrX:g.23393548T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393548T>A , CM000685.2:g.23393548T>A GRCh38
NC_000023.10:g.23411665T>A , CM000685.1:g.23411665T>A GRCh37
NC_000023.9:g.23321586T>A NCBI36
NG_021300.1:g.63681T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2030T>A MANE Select ENSP00000368666.4:p.Val677Glu
ENST00000379361.4:c.2030T>A ENSP00000368666.4:p.Val677Glu
NM_173495.2:c.2030T>A NP_775766.2:p.Val677Glu
XM_011545449.1:c.2030T>A XP_011543751.1:p.Val677Glu
XM_011545449.3:c.2030T>A XP_011543751.1:p.Val677Glu
NM_173495.3:c.2030T>A MANE Select NP_775766.2:p.Val677Glu
Search 100 bp 5'
Search 100 bp 3'