Canonical Allele Identifier: CA16605974
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 379517
dbSNP Id: rs550942448

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812466C>T , CM000672.2:g.110812466C>T GRCh38
NC_000010.10:g.112572224C>T , CM000672.1:g.112572224C>T GRCh37
NC_000010.9:g.112562214C>T NCBI36
NG_021177.1:g.173070C>T , LRG_382:g.173070C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2069C>T MANE Select ENSP00000358532.3:p.Pro690Leu
ENST00000369519.3:c.2069C>T ENSP00000358532.3:p.Pro690Leu
NM_001134363.2:c.2069C>T NP_001127835.2:p.Pro690Leu
XM_011539697.1:c.1685C>T XP_011537999.1:p.Pro562Leu
XM_017016103.2:c.1904C>T XP_016871592.1:p.Pro635Leu
XM_017016104.2:c.1685C>T XP_016871593.1:p.Pro562Leu
NM_001134363.3:c.2069C>T MANE Select NP_001127835.2:p.Pro690Leu