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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA412586932
Gene: PTCHD1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.23411611A>C (hg19)
chrX:g.23393494A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.23393494A>C , CM000685.2:g.23393494A>C
GRCh38
NC_000023.10:g.23411611A>C , CM000685.1:g.23411611A>C
GRCh37
NC_000023.9:g.23321532A>C
NCBI36
NG_021300.1:g.63627A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000379361.5:c.1976A>C
MANE Select
ENSP00000368666.4:p.Glu659Ala
ENST00000379361.4:c.1976A>C
ENSP00000368666.4:p.Glu659Ala
NM_173495.2:c.1976A>C
NP_775766.2:p.Glu659Ala
XM_011545449.1:c.1976A>C
XP_011543751.1:p.Glu659Ala
XM_011545449.3:c.1976A>C
XP_011543751.1:p.Glu659Ala
NM_173495.3:c.1976A>C
MANE Select
NP_775766.2:p.Glu659Ala
Search 100 bp 5'
Search 100 bp 3'