Canonical Allele Identifier: CA471507055
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572535A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812777A>C , CM000672.2:g.110812777A>C GRCh38
NC_000010.10:g.112572535A>C , CM000672.1:g.112572535A>C GRCh37
NC_000010.9:g.112562525A>C NCBI36
NG_021177.1:g.173381A>C , LRG_382:g.173381A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2380A>C MANE Select ENSP00000358532.3:p.Arg794=
ENST00000369519.3:c.2380A>C ENSP00000358532.3:p.Arg794=
NM_001134363.2:c.2380A>C NP_001127835.2:p.Arg794=
XM_011539697.1:c.1996A>C XP_011537999.1:p.Arg666=
XM_017016103.2:c.2215A>C XP_016871592.1:p.Arg739=
XM_017016104.2:c.1996A>C XP_016871593.1:p.Arg666=
NM_001134363.3:c.2380A>C MANE Select NP_001127835.2:p.Arg794=