Canonical Allele Identifier: CA595724295

Gene: RBM20

Linked Data

• dbSNP Id: rs1318936353
• gnomAD v2: 10-112570097-C-T
• gnomAD v4: 10-110810339-C-T
• MyVariant Identifiers: chr10:g.112570097C>T (hg19) ; chr10:g.110810339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110810339C>T , CM000672.2:g.110810339C>T	GRCh38
NC_000010.10:g.112570097C>T , CM000672.1:g.112570097C>T	GRCh37
NC_000010.9:g.112560087C>T	NCBI36
NG_021177.1:g.170943C>T , LRG_382:g.170943C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.1801-44C>T MANE Select	ENSP00000358532.3:n.1801-44C>T
ENST00000369519.3:c.1801-44C>T	ENSP00000358532.3:n.1801-44C>T
NM_001134363.2:c.1801-44C>T	NP_001127835.2:n.1801-44C>T
XM_011539697.1:c.1417-44C>T	XP_011537999.1:n.1417-44C>T
XM_017016103.2:c.1636-44C>T	XP_016871592.1:n.1636-44C>T
XM_017016104.2:c.1417-44C>T	XP_016871593.1:n.1417-44C>T
NM_001134363.3:c.1801-44C>T MANE Select	NP_001127835.2:n.1801-44C>T