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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:
CA3491151
Gene: POU4F3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504672
ClinVar RCV Id:
RCV001854135
RCV002506448
RCV003243214
dbSNP Id:
rs148985828
ExAC:
5:145719503 C / A
gnomAD v2:
5-145719503-C-A
gnomAD v3:
5-146339940-C-A
gnomAD v4:
5-146339940-C-A
MyVariant Identifiers:
chr5:g.145719503C>A (hg19)
chr5:g.146339940C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.146339940C>A , CM000667.2:g.146339940C>A
GRCh38
NC_000005.9:g.145719503C>A , CM000667.1:g.145719503C>A
GRCh37
NC_000005.8:g.145699696C>A
NCBI36
NG_011885.1:g.5917C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000646991.2:c.513C>A
MANE Select
ENSP00000495718.1:p.Ser171Arg
ENST00000230732.4:c.513C>A
ENSP00000230732.4:p.Ser171Arg
NM_002700.2:c.513C>A
NP_002691.1:p.Ser171Arg
NM_002700.3:c.513C>A
MANE Select
NP_002691.1:p.Ser171Arg
Search 100 bp 5'
Search 100 bp 3'