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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:
CA378379300
Gene: RBM20
HGNC
NCBI
Linked Data
gnomAD v4:
10-110780878-A-T
MyVariant Identifiers:
chr10:g.112540636A>T (hg19)
chr10:g.110780878A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110780878A>T , CM000672.2:g.110780878A>T
GRCh38
NC_000010.10:g.112540636A>T , CM000672.1:g.112540636A>T
GRCh37
NC_000010.9:g.112530626A>T
NCBI36
NG_021177.1:g.141482A>T , LRG_382:g.141482A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369519.4:c.269A>T
MANE Select
ENSP00000358532.3:p.Gln90Leu
ENST00000369519.3:c.269A>T
ENSP00000358532.3:p.Gln90Leu
NM_001134363.2:c.269A>T
NP_001127835.2:p.Gln90Leu
XM_011539697.1:c.-116A>T
XP_011537999.1:n.-116A>T
XM_017016103.2:c.104A>T
XP_016871592.1:p.Gln35Leu
XM_017016104.2:c.-116A>T
XP_016871593.1:n.-116A>T
NM_001134363.3:c.269A>T
MANE Select
NP_001127835.2:p.Gln90Leu
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