Canonical Allele Identifier: CA378370954
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1475557145

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812418A>C , CM000672.2:g.110812418A>C GRCh38
NC_000010.10:g.112572176A>C , CM000672.1:g.112572176A>C GRCh37
NC_000010.9:g.112562166A>C NCBI36
NG_021177.1:g.173022A>C , LRG_382:g.173022A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.2021A>C MANE Select ENSP00000358532.3:p.Asp674Ala
ENST00000369519.3:c.2021A>C ENSP00000358532.3:p.Asp674Ala
NM_001134363.2:c.2021A>C NP_001127835.2:p.Asp674Ala
XM_011539697.1:c.1637A>C XP_011537999.1:p.Asp546Ala
XM_017016103.2:c.1856A>C XP_016871592.1:p.Asp619Ala
XM_017016104.2:c.1637A>C XP_016871593.1:p.Asp546Ala
NM_001134363.3:c.2021A>C MANE Select NP_001127835.2:p.Asp674Ala