Canonical Allele Identifier: CA412579744
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23397803C>G (hg19) chrX:g.23379686C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379686C>G , CM000685.2:g.23379686C>G GRCh38
NC_000023.10:g.23397803C>G , CM000685.1:g.23397803C>G GRCh37
NC_000023.9:g.23307724C>G NCBI36
NG_021300.1:g.49819C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.447C>G MANE Select ENSP00000368666.4:p.Ile149Met
ENST00000379361.4:c.447C>G ENSP00000368666.4:p.Ile149Met
ENST00000456522.1:c.159-12845C>G
ENST00000616022.1:c.132C>G ENSP00000478663.1:p.Ile44Met
NM_173495.2:c.447C>G NP_775766.2:p.Ile149Met
XM_011545449.1:c.447C>G XP_011543751.1:p.Ile149Met
XM_011545449.3:c.447C>G XP_011543751.1:p.Ile149Met
NM_173495.3:c.447C>G MANE Select NP_775766.2:p.Ile149Met
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