Canonical Allele Identifier: CA378372266

Gene: RBM20

Linked Data

• dbSNP Id: rs1356157643
• gnomAD v2: 10-112572310-G-C
• gnomAD v4: 10-110812552-G-C
• MyVariant Identifiers: chr10:g.112572310G>C (hg19) ; chr10:g.110812552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812552G>C , CM000672.2:g.110812552G>C	GRCh38
NC_000010.10:g.112572310G>C , CM000672.1:g.112572310G>C	GRCh37
NC_000010.9:g.112562300G>C	NCBI36
NG_021177.1:g.173156G>C , LRG_382:g.173156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2155G>C MANE Select	ENSP00000358532.3:p.Asp719His
ENST00000369519.3:c.2155G>C	ENSP00000358532.3:p.Asp719His
NM_001134363.2:c.2155G>C	NP_001127835.2:p.Asp719His
XM_011539697.1:c.1771G>C	XP_011537999.1:p.Asp591His
XM_017016103.2:c.1990G>C	XP_016871592.1:p.Asp664His
XM_017016104.2:c.1771G>C	XP_016871593.1:p.Asp591His
NM_001134363.3:c.2155G>C MANE Select	NP_001127835.2:p.Asp719His