Canonical Allele Identifier: CA471507235

Gene: RBM20

Linked Data

• ClinVar Variation Id: 1534007
• ClinVar RCV Id: RCV002082801
• dbSNP Id: rs2135105127
• MyVariant Identifiers: chr10:g.112572378G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812620G>T , CM000672.2:g.110812620G>T	GRCh38
NC_000010.10:g.112572378G>T , CM000672.1:g.112572378G>T	GRCh37
NC_000010.9:g.112562368G>T	NCBI36
NG_021177.1:g.173224G>T , LRG_382:g.173224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2223G>T MANE Select	ENSP00000358532.3:p.Gly741=
ENST00000369519.3:c.2223G>T	ENSP00000358532.3:p.Gly741=
NM_001134363.2:c.2223G>T	NP_001127835.2:p.Gly741=
XM_011539697.1:c.1839G>T	XP_011537999.1:p.Gly613=
XM_017016103.2:c.2058G>T	XP_016871592.1:p.Gly686=
XM_017016104.2:c.1839G>T	XP_016871593.1:p.Gly613=
NM_001134363.3:c.2223G>T MANE Select	NP_001127835.2:p.Gly741=