Canonical Allele Identifier: CA378379309
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780880C>G , CM000672.2:g.110780880C>G GRCh38
NC_000010.10:g.112540638C>G , CM000672.1:g.112540638C>G GRCh37
NC_000010.9:g.112530628C>G NCBI36
NG_021177.1:g.141484C>G , LRG_382:g.141484C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.271C>G MANE Select ENSP00000358532.3:p.Leu91Val
ENST00000369519.3:c.271C>G ENSP00000358532.3:p.Leu91Val
NM_001134363.2:c.271C>G NP_001127835.2:p.Leu91Val
XM_011539697.1:c.-114C>G XP_011537999.1:n.-114C>G
XM_017016103.2:c.106C>G XP_016871592.1:p.Leu36Val
XM_017016104.2:c.-114C>G XP_016871593.1:n.-114C>G
NM_001134363.3:c.271C>G MANE Select NP_001127835.2:p.Leu91Val