Canonical Allele Identifier: CA378370759

Gene: RBM20

Linked Data

• MyVariant Identifiers: chr10:g.112572143G>T (hg19) ; chr10:g.110812385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812385G>T , CM000672.2:g.110812385G>T	GRCh38
NC_000010.10:g.112572143G>T , CM000672.1:g.112572143G>T	GRCh37
NC_000010.9:g.112562133G>T	NCBI36
NG_021177.1:g.172989G>T , LRG_382:g.172989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1988G>T MANE Select	ENSP00000358532.3:p.Gly663Val
ENST00000369519.3:c.1988G>T	ENSP00000358532.3:p.Gly663Val
NM_001134363.2:c.1988G>T	NP_001127835.2:p.Gly663Val
XM_011539697.1:c.1604G>T	XP_011537999.1:p.Gly535Val
XM_017016103.2:c.1823G>T	XP_016871592.1:p.Gly608Val
XM_017016104.2:c.1604G>T	XP_016871593.1:p.Gly535Val
NM_001134363.3:c.1988G>T MANE Select	NP_001127835.2:p.Gly663Val