Canonical Allele Identifier: CA378379307

Gene: RBM20

Linked Data

• gnomAD v4: 10-110780880-C-A
• MyVariant Identifiers: chr10:g.112540638C>A (hg19) ; chr10:g.110780880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110780880C>A , CM000672.2:g.110780880C>A	GRCh38
NC_000010.10:g.112540638C>A , CM000672.1:g.112540638C>A	GRCh37
NC_000010.9:g.112530628C>A	NCBI36
NG_021177.1:g.141484C>A , LRG_382:g.141484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.271C>A MANE Select	ENSP00000358532.3:p.Leu91Met
ENST00000369519.3:c.271C>A	ENSP00000358532.3:p.Leu91Met
NM_001134363.2:c.271C>A	NP_001127835.2:p.Leu91Met
XM_011539697.1:c.-114C>A	XP_011537999.1:n.-114C>A
XM_017016103.2:c.106C>A	XP_016871592.1:p.Leu36Met
XM_017016104.2:c.-114C>A	XP_016871593.1:n.-114C>A
NM_001134363.3:c.271C>A MANE Select	NP_001127835.2:p.Leu91Met