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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:
CA413750691
Gene: POU3F4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.82763382T>G (hg19)
chrX:g.83508374T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83508374T>G , CM000685.2:g.83508374T>G
GRCh38
NC_000023.10:g.82763382T>G , CM000685.1:g.82763382T>G
GRCh37
NC_000023.9:g.82650038T>G
NCBI36
NG_009936.2:g.5114T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000644024.2:c.50T>G
MANE Select
ENSP00000495996.1:p.Leu17Arg
ENST00000373200.4:c.50T>G
ENSP00000362296.2:p.Leu17Arg
NM_000307.4:c.50T>G
NP_000298.3:p.Leu17Arg
NM_000307.5:c.50T>G
MANE Select
NP_000298.3:p.Leu17Arg
Search 100 bp 5'
Search 100 bp 3'