Canonical Allele Identifier: CA378379829

Gene: RBM20

Linked Data

• MyVariant Identifiers: chr10:g.112540733A>T (hg19) ; chr10:g.110780975A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110780975A>T , CM000672.2:g.110780975A>T	GRCh38
NC_000010.10:g.112540733A>T , CM000672.1:g.112540733A>T	GRCh37
NC_000010.9:g.112530723A>T	NCBI36
NG_021177.1:g.141579A>T , LRG_382:g.141579A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369519.4:c.366A>T MANE Select	ENSP00000358532.3:p.Gln122His
ENST00000369519.3:c.366A>T	ENSP00000358532.3:p.Gln122His
NM_001134363.2:c.366A>T	NP_001127835.2:p.Gln122His
XM_011539697.1:c.-19A>T	XP_011537999.1:n.-19A>T
XM_017016103.2:c.201A>T	XP_016871592.1:p.Gln67His
XM_017016104.2:c.-19A>T	XP_016871593.1:n.-19A>T
NM_001134363.3:c.366A>T MANE Select	NP_001127835.2:p.Gln122His