Canonical Allele Identifier: CA515620317
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411642G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393525G>A , CM000685.2:g.23393525G>A GRCh38
NC_000023.10:g.23411642G>A , CM000685.1:g.23411642G>A GRCh37
NC_000023.9:g.23321563G>A NCBI36
NG_021300.1:g.63658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379361.5:c.2007G>A MANE Select ENSP00000368666.4:p.Arg669=
ENST00000379361.4:c.2007G>A ENSP00000368666.4:p.Arg669=
NM_173495.2:c.2007G>A NP_775766.2:p.Arg669=
XM_011545449.1:c.2007G>A XP_011543751.1:p.Arg669=
XM_011545449.3:c.2007G>A XP_011543751.1:p.Arg669=
NM_173495.3:c.2007G>A MANE Select NP_775766.2:p.Arg669=
Search 100 bp 5'
Search 100 bp 3'