Canonical Allele Identifier: CA378371096
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812439A>T , CM000672.2:g.110812439A>T GRCh38
NC_000010.10:g.112572197A>T , CM000672.1:g.112572197A>T GRCh37
NC_000010.9:g.112562187A>T NCBI36
NG_021177.1:g.173043A>T , LRG_382:g.173043A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2042A>T MANE Select ENSP00000358532.3:p.Tyr681Phe
ENST00000369519.3:c.2042A>T ENSP00000358532.3:p.Tyr681Phe
NM_001134363.2:c.2042A>T NP_001127835.2:p.Tyr681Phe
XM_011539697.1:c.1658A>T XP_011537999.1:p.Tyr553Phe
XM_017016103.2:c.1877A>T XP_016871592.1:p.Tyr626Phe
XM_017016104.2:c.1658A>T XP_016871593.1:p.Tyr553Phe
NM_001134363.3:c.2042A>T MANE Select NP_001127835.2:p.Tyr681Phe