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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:
CA342273419
Gene: SF3B4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.149895528T>C (hg19)
chr1:g.149923636T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149923636T>C , CM000663.2:g.149923636T>C
GRCh38
NC_000001.10:g.149895528T>C , CM000663.1:g.149895528T>C
GRCh37
NC_000001.9:g.148162152T>C
NCBI36
NG_032777.1:g.9617A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000271628.9:c.1181A>G
MANE Select
ENSP00000271628.8:p.Tyr394Cys
ENST00000271628.8:c.1181A>G
ENSP00000271628.8:p.Tyr394Cys
NM_005850.4:c.1181A>G
NP_005841.1:p.Tyr394Cys
NM_005850.5:c.1181A>G
MANE Select
NP_005841.1:p.Tyr394Cys
Search 100 bp 5'
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