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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:
CA1457429549
Gene: SGCB
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.52028801A= , CM000666.2:g.52028801A=
GRCh38
NC_000004.11:g.52894967A= , CM000666.1:g.52894967A=
GRCh37
NC_000004.10:g.52589724A=
NCBI36
NG_008891.1:g.14519T= , LRG_204:g.14519T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000381431.10:c.550T=
MANE Select
ENSP00000370839.6:p.Tyr184=
ENST00000381431.9:c.550T=
ENSP00000370839.5:p.Tyr184=
ENST00000506357.5:c.633T=
NM_000232.4:c.550T= , LRG_204t1:c.550T=
NP_000223.1:p.Tyr184=
XM_006714049.2:c.253T=
XP_006714112.1:p.Tyr85=
XM_011534403.1:c.340T=
XP_011532705.1:p.Tyr114=
XM_011534404.1:c.253T=
XP_011532706.1:p.Tyr85=
NM_000232.5:c.550T=
MANE Select
NP_000223.1:p.Tyr184=
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