Canonical Allele Identifier: CA378371997
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs762685493

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812520C>A , CM000672.2:g.110812520C>A GRCh38
NC_000010.10:g.112572278C>A , CM000672.1:g.112572278C>A GRCh37
NC_000010.9:g.112562268C>A NCBI36
NG_021177.1:g.173124C>A , LRG_382:g.173124C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2123C>A MANE Select ENSP00000358532.3:p.Ala708Glu
ENST00000369519.3:c.2123C>A ENSP00000358532.3:p.Ala708Glu
NM_001134363.2:c.2123C>A NP_001127835.2:p.Ala708Glu
XM_011539697.1:c.1739C>A XP_011537999.1:p.Ala580Glu
XM_017016103.2:c.1958C>A XP_016871592.1:p.Ala653Glu
XM_017016104.2:c.1739C>A XP_016871593.1:p.Ala580Glu
NM_001134363.3:c.2123C>A MANE Select NP_001127835.2:p.Ala708Glu