Canonical Allele Identifier: CA471368050

Gene: RBM20

Linked Data

• dbSNP Id: rs1844778490
• gnomAD v3: 10-110812314-G-C
• gnomAD v4: 10-110812314-G-C
• MyVariant Identifiers: chr10:g.112572072G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812314G>C , CM000672.2:g.110812314G>C	GRCh38
NC_000010.10:g.112572072G>C , CM000672.1:g.112572072G>C	GRCh37
NC_000010.9:g.112562062G>C	NCBI36
NG_021177.1:g.172918G>C , LRG_382:g.172918G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1917G>C MANE Select	ENSP00000358532.3:p.Val639=
ENST00000369519.3:c.1917G>C	ENSP00000358532.3:p.Val639=
NM_001134363.2:c.1917G>C	NP_001127835.2:p.Val639=
XM_011539697.1:c.1533G>C	XP_011537999.1:p.Val511=
XM_017016103.2:c.1752G>C	XP_016871592.1:p.Val584=
XM_017016104.2:c.1533G>C	XP_016871593.1:p.Val511=
NM_001134363.3:c.1917G>C MANE Select	NP_001127835.2:p.Val639=