Canonical Allele Identifier: CA378373600

Gene: RBM20

Linked Data

• dbSNP Id: rs1214746600
• gnomAD v2: 10-112572524-T-A
• gnomAD v4: 10-110812766-T-A
• MyVariant Identifiers: chr10:g.112572524T>A (hg19) ; chr10:g.110812766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812766T>A , CM000672.2:g.110812766T>A	GRCh38
NC_000010.10:g.112572524T>A , CM000672.1:g.112572524T>A	GRCh37
NC_000010.9:g.112562514T>A	NCBI36
NG_021177.1:g.173370T>A , LRG_382:g.173370T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2369T>A MANE Select	ENSP00000358532.3:p.Leu790Gln
ENST00000369519.3:c.2369T>A	ENSP00000358532.3:p.Leu790Gln
NM_001134363.2:c.2369T>A	NP_001127835.2:p.Leu790Gln
XM_011539697.1:c.1985T>A	XP_011537999.1:p.Leu662Gln
XM_017016103.2:c.2204T>A	XP_016871592.1:p.Leu735Gln
XM_017016104.2:c.1985T>A	XP_016871593.1:p.Leu662Gln
NM_001134363.3:c.2369T>A MANE Select	NP_001127835.2:p.Leu790Gln