Canonical Allele Identifier: CA515619475
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23397806G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23379689G>C , CM000685.2:g.23379689G>C GRCh38
NC_000023.10:g.23397806G>C , CM000685.1:g.23397806G>C GRCh37
NC_000023.9:g.23307727G>C NCBI36
NG_021300.1:g.49822G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.450G>C MANE Select ENSP00000368666.4:p.Val150=
ENST00000379361.4:c.450G>C ENSP00000368666.4:p.Val150=
ENST00000456522.1:c.159-12842G>C
ENST00000616022.1:c.135G>C ENSP00000478663.1:p.Val45=
NM_173495.2:c.450G>C NP_775766.2:p.Val150=
XM_011545449.1:c.450G>C XP_011543751.1:p.Val150=
XM_011545449.3:c.450G>C XP_011543751.1:p.Val150=
NM_173495.3:c.450G>C MANE Select NP_775766.2:p.Val150=
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