Canonical Allele Identifier: CA378374348
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812875T>G , CM000672.2:g.110812875T>G GRCh38
NC_000010.10:g.112572633T>G , CM000672.1:g.112572633T>G GRCh37
NC_000010.9:g.112562623T>G NCBI36
NG_021177.1:g.173479T>G , LRG_382:g.173479T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2478T>G MANE Select ENSP00000358532.3:p.Asn826Lys
ENST00000369519.3:c.2478T>G ENSP00000358532.3:p.Asn826Lys
NM_001134363.2:c.2478T>G NP_001127835.2:p.Asn826Lys
XM_011539697.1:c.2094T>G XP_011537999.1:p.Asn698Lys
XM_017016103.2:c.2313T>G XP_016871592.1:p.Asn771Lys
XM_017016104.2:c.2094T>G XP_016871593.1:p.Asn698Lys
NM_001134363.3:c.2478T>G MANE Select NP_001127835.2:p.Asn826Lys