Canonical Allele Identifier: CA412586912
Gene: PTCHD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.23411607A>G (hg19) chrX:g.23393490A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.23393490A>G , CM000685.2:g.23393490A>G GRCh38
NC_000023.10:g.23411607A>G , CM000685.1:g.23411607A>G GRCh37
NC_000023.9:g.23321528A>G NCBI36
NG_021300.1:g.63623A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379361.5:c.1972A>G MANE Select ENSP00000368666.4:p.Arg658Gly
ENST00000379361.4:c.1972A>G ENSP00000368666.4:p.Arg658Gly
NM_173495.2:c.1972A>G NP_775766.2:p.Arg658Gly
XM_011545449.1:c.1972A>G XP_011543751.1:p.Arg658Gly
XM_011545449.3:c.1972A>G XP_011543751.1:p.Arg658Gly
NM_173495.3:c.1972A>G MANE Select NP_775766.2:p.Arg658Gly
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