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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:
CA376676461
Gene: RBP3
HGNC
NCBI
Linked Data
gnomAD v4:
10-47353409-T-A
MyVariant Identifiers:
chr10:g.48385953A>T (hg19)
chr10:g.47353409T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.47353409T>A , CM000672.2:g.47353409T>A
GRCh38
NC_000010.10:g.48385953A>T , CM000672.1:g.48385953A>T
GRCh37
NC_000010.9:g.48005959A>T
NCBI36
NG_029718.1:g.10039T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000584701.2:c.3139T>A
MANE Select
ENSP00000463151.1:p.Phe1047Ile
ENST00000584701.1:c.3139T>A
ENSP00000463151.1:p.Phe1047Ile
NM_002900.2:c.3139T>A
NP_002891.1:p.Phe1047Ile
NM_002900.3:c.3139T>A
MANE Select
NP_002891.1:p.Phe1047Ile
Search 100 bp 5'
Search 100 bp 3'