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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:
CA378440643
Gene: ADRB1
HGNC
NCBI
Linked Data
gnomAD v4:
10-114044283-G-C
MyVariant Identifiers:
chr10:g.115804042G>C (hg19)
chr10:g.114044283G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.114044283G>C , CM000672.2:g.114044283G>C
GRCh38
NC_000010.10:g.115804042G>C , CM000672.1:g.115804042G>C
GRCh37
NC_000010.9:g.115794032G>C
NCBI36
NG_012187.1:g.5237G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369295.4:c.151G>C
MANE Select
ENSP00000358301.2:p.Glu51Gln
ENST00000369295.3:c.151G>C
ENSP00000358301.2:p.Glu51Gln
NM_000684.2:c.151G>C
NP_000675.1:p.Glu51Gln
NM_000684.3:c.151G>C
MANE Select
NP_000675.1:p.Glu51Gln
Search 100 bp 5'
Search 100 bp 3'