Canonical Allele Identifier: CA378370823

Gene: RBM20

Linked Data

• dbSNP Id: rs780115137
• gnomAD v4: 10-110812396-G-T
• MyVariant Identifiers: chr10:g.112572154G>T (hg19) ; chr10:g.110812396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812396G>T , CM000672.2:g.110812396G>T	GRCh38
NC_000010.10:g.112572154G>T , CM000672.1:g.112572154G>T	GRCh37
NC_000010.9:g.112562144G>T	NCBI36
NG_021177.1:g.173000G>T , LRG_382:g.173000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1999G>T MANE Select	ENSP00000358532.3:p.Ala667Ser
ENST00000369519.3:c.1999G>T	ENSP00000358532.3:p.Ala667Ser
NM_001134363.2:c.1999G>T	NP_001127835.2:p.Ala667Ser
XM_011539697.1:c.1615G>T	XP_011537999.1:p.Ala539Ser
XM_017016103.2:c.1834G>T	XP_016871592.1:p.Ala612Ser
XM_017016104.2:c.1615G>T	XP_016871593.1:p.Ala539Ser
NM_001134363.3:c.1999G>T MANE Select	NP_001127835.2:p.Ala667Ser