Canonical Allele Identifier: CA378370594
Gene: RBM20 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812366T>G , CM000672.2:g.110812366T>G GRCh38
NC_000010.10:g.112572124T>G , CM000672.1:g.112572124T>G GRCh37
NC_000010.9:g.112562114T>G NCBI36
NG_021177.1:g.172970T>G , LRG_382:g.172970T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1969T>G MANE Select ENSP00000358532.3:p.Ser657Ala
ENST00000369519.3:c.1969T>G ENSP00000358532.3:p.Ser657Ala
NM_001134363.2:c.1969T>G NP_001127835.2:p.Ser657Ala
XM_011539697.1:c.1585T>G XP_011537999.1:p.Ser529Ala
XM_017016103.2:c.1804T>G XP_016871592.1:p.Ser602Ala
XM_017016104.2:c.1585T>G XP_016871593.1:p.Ser529Ala
NM_001134363.3:c.1969T>G MANE Select NP_001127835.2:p.Ser657Ala