Canonical Allele Identifier: CA471368061
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112572084C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812326C>G , CM000672.2:g.110812326C>G GRCh38
NC_000010.10:g.112572084C>G , CM000672.1:g.112572084C>G GRCh37
NC_000010.9:g.112562074C>G NCBI36
NG_021177.1:g.172930C>G , LRG_382:g.172930C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1929C>G MANE Select ENSP00000358532.3:p.Leu643=
ENST00000369519.3:c.1929C>G ENSP00000358532.3:p.Leu643=
NM_001134363.2:c.1929C>G NP_001127835.2:p.Leu643=
XM_011539697.1:c.1545C>G XP_011537999.1:p.Leu515=
XM_017016103.2:c.1764C>G XP_016871592.1:p.Leu588=
XM_017016104.2:c.1545C>G XP_016871593.1:p.Leu515=
NM_001134363.3:c.1929C>G MANE Select NP_001127835.2:p.Leu643=