×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA133244
Gene: RBM20
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43962
ClinVar RCV Id:
RCV000036934
RCV002305441
dbSNP Id:
rs397516589
gnomAD v2:
10-112404207-C-T
gnomAD v3:
10-110644449-C-T
gnomAD v4:
10-110644449-C-T
MyVariant Identifiers:
chr10:g.112404207C>T (hg19)
chr10:g.110644449C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.110644449C>T , CM000672.2:g.110644449C>T
GRCh38
NC_000010.10:g.112404207C>T , CM000672.1:g.112404207C>T
GRCh37
NC_000010.9:g.112394197C>T
NCBI36
NG_021177.1:g.5053C>T , LRG_382:g.5053C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000369519.4:c.-6C>T
MANE Select
ENSP00000358532.3:n.-6C>T
ENST00000369519.3:c.-6C>T
ENSP00000358532.3:n.-6C>T
NM_001134363.2:c.-6C>T
NP_001127835.2:n.-6C>T
XM_017016103.2:c.26+1009C>T
XP_016871592.1:n.26+1009C>T
NM_001134363.3:c.-6C>T
MANE Select
NP_001127835.2:n.-6C>T
Search 100 bp 5'
Search 100 bp 3'