Canonical Allele Identifier: CA378380516

Gene: RBM20

Linked Data

• dbSNP Id: rs397516620
• gnomAD v3: 10-110781074-T-A
• gnomAD v4: 10-110781074-T-A
• MyVariant Identifiers: chr10:g.112540832T>A (hg19) ; chr10:g.110781074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781074T>A , CM000672.2:g.110781074T>A	GRCh38
NC_000010.10:g.112540832T>A , CM000672.1:g.112540832T>A	GRCh37
NC_000010.9:g.112530822T>A	NCBI36
NG_021177.1:g.141678T>A , LRG_382:g.141678T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.465T>A MANE Select	ENSP00000358532.3:p.His155Gln
ENST00000369519.3:c.465T>A	ENSP00000358532.3:p.His155Gln
NM_001134363.2:c.465T>A	NP_001127835.2:p.His155Gln
XM_011539697.1:c.81T>A	XP_011537999.1:p.His27Gln
XM_017016103.2:c.300T>A	XP_016871592.1:p.His100Gln
XM_017016104.2:c.81T>A	XP_016871593.1:p.His27Gln
NM_001134363.3:c.465T>A MANE Select	NP_001127835.2:p.His155Gln