Canonical Allele Identifier: CA412579747
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23397805T>G (hg19) chrX:g.23379688T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379688T>G , CM000685.2:g.23379688T>G GRCh38
NC_000023.10:g.23397805T>G , CM000685.1:g.23397805T>G GRCh37
NC_000023.9:g.23307726T>G NCBI36
NG_021300.1:g.49821T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.449T>G MANE Select ENSP00000368666.4:p.Val150Gly
ENST00000379361.4:c.449T>G ENSP00000368666.4:p.Val150Gly
ENST00000456522.1:c.159-12843T>G
ENST00000616022.1:c.134T>G ENSP00000478663.1:p.Val45Gly
NM_173495.2:c.449T>G NP_775766.2:p.Val150Gly
XM_011545449.1:c.449T>G XP_011543751.1:p.Val150Gly
XM_011545449.3:c.449T>G XP_011543751.1:p.Val150Gly
NM_173495.3:c.449T>G MANE Select NP_775766.2:p.Val150Gly
Search 100 bp 5'
Search 100 bp 3'