Canonical Allele Identifier: CA471368093

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812374-C-T
• MyVariant Identifiers: chr10:g.112572132C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812374C>T , CM000672.2:g.110812374C>T	GRCh38
NC_000010.10:g.112572132C>T , CM000672.1:g.112572132C>T	GRCh37
NC_000010.9:g.112562122C>T	NCBI36
NG_021177.1:g.172978C>T , LRG_382:g.172978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1977C>T MANE Select	ENSP00000358532.3:p.His659=
ENST00000369519.3:c.1977C>T	ENSP00000358532.3:p.His659=
NM_001134363.2:c.1977C>T	NP_001127835.2:p.His659=
XM_011539697.1:c.1593C>T	XP_011537999.1:p.His531=
XM_017016103.2:c.1812C>T	XP_016871592.1:p.His604=
XM_017016104.2:c.1593C>T	XP_016871593.1:p.His531=
NM_001134363.3:c.1977C>T MANE Select	NP_001127835.2:p.His659=