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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:
CA10462741
Gene: POU3F4
HGNC
NCBI
Linked Data
dbSNP Id:
rs761765614
ExAC:
X:82763481 G / A
gnomAD v2:
X-82763481-G-A
MyVariant Identifiers:
chrX:g.82763481G>A (hg19)
chrX:g.83508473G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83508473G>A , CM000685.2:g.83508473G>A
GRCh38
NC_000023.10:g.82763481G>A , CM000685.1:g.82763481G>A
GRCh37
NC_000023.9:g.82650137G>A
NCBI36
NG_009936.2:g.5213G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.149G>A
MANE Select
ENSP00000495996.1:p.Gly50Glu
ENST00000373200.4:c.149G>A
ENSP00000362296.2:p.Gly50Glu
NM_000307.4:c.149G>A
NP_000298.3:p.Gly50Glu
NM_000307.5:c.149G>A
MANE Select
NP_000298.3:p.Gly50Glu
Search 100 bp 5'
Search 100 bp 3'