Canonical Allele Identifier: CA412587057
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411664G>C (hg19) chrX:g.23393547G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393547G>C , CM000685.2:g.23393547G>C GRCh38
NC_000023.10:g.23411664G>C , CM000685.1:g.23411664G>C GRCh37
NC_000023.9:g.23321585G>C NCBI36
NG_021300.1:g.63680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2029G>C MANE Select ENSP00000368666.4:p.Val677Leu
ENST00000379361.4:c.2029G>C ENSP00000368666.4:p.Val677Leu
NM_173495.2:c.2029G>C NP_775766.2:p.Val677Leu
XM_011545449.1:c.2029G>C XP_011543751.1:p.Val677Leu
XM_011545449.3:c.2029G>C XP_011543751.1:p.Val677Leu
NM_173495.3:c.2029G>C MANE Select NP_775766.2:p.Val677Leu
Search 100 bp 5'
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