Canonical Allele Identifier: CA378380521
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1421294892
gnomAD v2: 10-112540833-G-A
gnomAD v4: 10-110781075-G-A
MyVariant Identifiers: chr10:g.112540833G>A (hg19) chr10:g.110781075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110781075G>A , CM000672.2:g.110781075G>A GRCh38
NC_000010.10:g.112540833G>A , CM000672.1:g.112540833G>A GRCh37
NC_000010.9:g.112530823G>A NCBI36
NG_021177.1:g.141679G>A , LRG_382:g.141679G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.466G>A MANE Select ENSP00000358532.3:p.Ala156Thr
ENST00000369519.3:c.466G>A ENSP00000358532.3:p.Ala156Thr
NM_001134363.2:c.466G>A NP_001127835.2:p.Ala156Thr
XM_011539697.1:c.82G>A XP_011537999.1:p.Ala28Thr
XM_017016103.2:c.301G>A XP_016871592.1:p.Ala101Thr
XM_017016104.2:c.82G>A XP_016871593.1:p.Ala28Thr
NM_001134363.3:c.466G>A MANE Select NP_001127835.2:p.Ala156Thr
Search 100 bp 5'
Search 100 bp 3'