Canonical Allele Identifier: CA471506935
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572249T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812491T>C , CM000672.2:g.110812491T>C GRCh38
NC_000010.10:g.112572249T>C , CM000672.1:g.112572249T>C GRCh37
NC_000010.9:g.112562239T>C NCBI36
NG_021177.1:g.173095T>C , LRG_382:g.173095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2094T>C MANE Select ENSP00000358532.3:p.Asp698=
ENST00000369519.3:c.2094T>C ENSP00000358532.3:p.Asp698=
NM_001134363.2:c.2094T>C NP_001127835.2:p.Asp698=
XM_011539697.1:c.1710T>C XP_011537999.1:p.Asp570=
XM_017016103.2:c.1929T>C XP_016871592.1:p.Asp643=
XM_017016104.2:c.1710T>C XP_016871593.1:p.Asp570=
NM_001134363.3:c.2094T>C MANE Select NP_001127835.2:p.Asp698=