Canonical Allele Identifier: CA378371061

Gene: RBM20

Linked Data

• MyVariant Identifiers: chr10:g.112572191C>G (hg19) ; chr10:g.110812433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812433C>G , CM000672.2:g.110812433C>G	GRCh38
NC_000010.10:g.112572191C>G , CM000672.1:g.112572191C>G	GRCh37
NC_000010.9:g.112562181C>G	NCBI36
NG_021177.1:g.173037C>G , LRG_382:g.173037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2036C>G MANE Select	ENSP00000358532.3:p.Ser679Cys
ENST00000369519.3:c.2036C>G	ENSP00000358532.3:p.Ser679Cys
NM_001134363.2:c.2036C>G	NP_001127835.2:p.Ser679Cys
XM_011539697.1:c.1652C>G	XP_011537999.1:p.Ser551Cys
XM_017016103.2:c.1871C>G	XP_016871592.1:p.Ser624Cys
XM_017016104.2:c.1652C>G	XP_016871593.1:p.Ser551Cys
NM_001134363.3:c.2036C>G MANE Select	NP_001127835.2:p.Ser679Cys