Canonical Allele Identifier: CA471506614

Gene: RBM20

Linked Data

• gnomAD v4: 10-110780882-G-T
• MyVariant Identifiers: chr10:g.112540640G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110780882G>T , CM000672.2:g.110780882G>T	GRCh38
NC_000010.10:g.112540640G>T , CM000672.1:g.112540640G>T	GRCh37
NC_000010.9:g.112530630G>T	NCBI36
NG_021177.1:g.141486G>T , LRG_382:g.141486G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.273G>T MANE Select	ENSP00000358532.3:p.Leu91=
ENST00000369519.3:c.273G>T	ENSP00000358532.3:p.Leu91=
NM_001134363.2:c.273G>T	NP_001127835.2:p.Leu91=
XM_011539697.1:c.-112G>T	XP_011537999.1:n.-112G>T
XM_017016103.2:c.108G>T	XP_016871592.1:p.Leu36=
XM_017016104.2:c.-112G>T	XP_016871593.1:n.-112G>T
NM_001134363.3:c.273G>T MANE Select	NP_001127835.2:p.Leu91=