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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:
CA412586898
Gene: PTCHD1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.23411604A>C (hg19)
chrX:g.23393487A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.23393487A>C , CM000685.2:g.23393487A>C
GRCh38
NC_000023.10:g.23411604A>C , CM000685.1:g.23411604A>C
GRCh37
NC_000023.9:g.23321525A>C
NCBI36
NG_021300.1:g.63620A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000379361.5:c.1969A>C
MANE Select
ENSP00000368666.4:p.Asn657His
ENST00000379361.4:c.1969A>C
ENSP00000368666.4:p.Asn657His
NM_173495.2:c.1969A>C
NP_775766.2:p.Asn657His
XM_011545449.1:c.1969A>C
XP_011543751.1:p.Asn657His
XM_011545449.3:c.1969A>C
XP_011543751.1:p.Asn657His
NM_173495.3:c.1969A>C
MANE Select
NP_775766.2:p.Asn657His
Search 100 bp 5'
Search 100 bp 3'