Canonical Allele Identifier: CA471507096
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572318T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812560T>A , CM000672.2:g.110812560T>A GRCh38
NC_000010.10:g.112572318T>A , CM000672.1:g.112572318T>A GRCh37
NC_000010.9:g.112562308T>A NCBI36
NG_021177.1:g.173164T>A , LRG_382:g.173164T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2163T>A MANE Select ENSP00000358532.3:p.Ala721=
ENST00000369519.3:c.2163T>A ENSP00000358532.3:p.Ala721=
NM_001134363.2:c.2163T>A NP_001127835.2:p.Ala721=
XM_011539697.1:c.1779T>A XP_011537999.1:p.Ala593=
XM_017016103.2:c.1998T>A XP_016871592.1:p.Ala666=
XM_017016104.2:c.1779T>A XP_016871593.1:p.Ala593=
NM_001134363.3:c.2163T>A MANE Select NP_001127835.2:p.Ala721=