Canonical Allele Identifier: CA378527213

Gene: RBM20

Linked Data

• MyVariant Identifiers: chr10:g.112404213A>T (hg19) ; chr10:g.110644455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110644455A>T , CM000672.2:g.110644455A>T	GRCh38
NC_000010.10:g.112404213A>T , CM000672.1:g.112404213A>T	GRCh37
NC_000010.9:g.112394203A>T	NCBI36
NG_021177.1:g.5059A>T , LRG_382:g.5059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1A>T MANE Select	ENSP00000358532.3:p.Met1Leu
ENST00000369519.3:c.1A>T	ENSP00000358532.3:p.Met1Leu
NM_001134363.2:c.1A>T	NP_001127835.2:p.Met1Leu
XM_017016103.2:c.26+1015A>T	XP_016871592.1:n.26+1015A>T
NM_001134363.3:c.1A>T MANE Select	NP_001127835.2:p.Met1Leu