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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:
CA412610950
Gene: ARX
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.25023012C>G (hg19)
chrX:g.25004895C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25004895C>G , CM000685.2:g.25004895C>G
GRCh38
NC_000023.10:g.25023012C>G , CM000685.1:g.25023012C>G
GRCh37
NC_000023.9:g.24932933C>G
NCBI36
NG_008281.1:g.16054G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1464G>C
MANE Select
ENSP00000368332.4:p.Met488Ile
ENST00000636885.1:n.52G>C
ENST00000379044.4:c.1464G>C
ENSP00000368332.4:p.Met488Ile
NM_139058.2:c.1464G>C
NP_620689.1:p.Met488Ile
NM_139058.3:c.1464G>C
MANE Select
NP_620689.1:p.Met488Ile
Search 100 bp 5'
Search 100 bp 3'