Canonical Allele Identifier: CA378370595

Gene: RBM20

Linked Data

• dbSNP Id: rs922116966
• gnomAD v3: 10-110812367-C-A
• gnomAD v4: 10-110812367-C-A
• MyVariant Identifiers: chr10:g.112572125C>A (hg19) ; chr10:g.110812367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812367C>A , CM000672.2:g.110812367C>A	GRCh38
NC_000010.10:g.112572125C>A , CM000672.1:g.112572125C>A	GRCh37
NC_000010.9:g.112562115C>A	NCBI36
NG_021177.1:g.172971C>A , LRG_382:g.172971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1970C>A MANE Select	ENSP00000358532.3:p.Ser657Tyr
ENST00000369519.3:c.1970C>A	ENSP00000358532.3:p.Ser657Tyr
NM_001134363.2:c.1970C>A	NP_001127835.2:p.Ser657Tyr
XM_011539697.1:c.1586C>A	XP_011537999.1:p.Ser529Tyr
XM_017016103.2:c.1805C>A	XP_016871592.1:p.Ser602Tyr
XM_017016104.2:c.1586C>A	XP_016871593.1:p.Ser529Tyr
NM_001134363.3:c.1970C>A MANE Select	NP_001127835.2:p.Ser657Tyr