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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:
CA1717046918
Gene: BAZ1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1787634776
gnomAD v4:
7-73441958-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.73441958G>T , CM000669.2:g.73441958G>T
GRCh38
NC_000007.13:g.72856288G>T , CM000669.1:g.72856288G>T
GRCh37
NC_000007.12:g.72494224G>T
NCBI36
NG_027679.1:g.85328C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000339594.9:c.*15+223C>A
MANE Select
ENSP00000342434.4:n.*15+223C>A
ENST00000339594.8:c.*15+223C>A
ENSP00000342434.4:n.*15+223C>A
ENST00000404251.1:c.*238C>A
ENSP00000385442.1:n.*238C>A
NM_032408.3:c.*15+223C>A
NP_115784.1:n.*15+223C>A
XM_017012773.2:c.*238C>A
XP_016868262.1:n.*238C>A
NM_032408.4:c.*15+223C>A
MANE Select
NP_115784.1:n.*15+223C>A
NM_001370402.1:c.*238C>A
NP_001357331.1:n.*238C>A
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