Canonical Allele Identifier: CA133245

Gene: RBM20

Linked Data

• ClinVar Variation Id: 43963
• ClinVar RCV Id: RCV000036935 ; RCV000157428 ; RCV002381302 ; RCV000994506 ; RCV000686647 ; RCV001256893
• dbSNP Id: rs112226602
• ExAC: 10:112541394 C / T
• gnomAD v2: 10-112541394-C-T
• gnomAD v3: 10-110781636-C-T
• gnomAD v4: 10-110781636-C-T
• MyVariant Identifiers: chr10:g.112541394C>T (hg19) ; chr10:g.110781636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110781636C>T , CM000672.2:g.110781636C>T	GRCh38
NC_000010.10:g.112541394C>T , CM000672.1:g.112541394C>T	GRCh37
NC_000010.9:g.112531384C>T	NCBI36
NG_021177.1:g.142240C>T , LRG_382:g.142240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1027C>T MANE Select	ENSP00000358532.3:p.His343Tyr
ENST00000369519.3:c.1027C>T	ENSP00000358532.3:p.His343Tyr
NM_001134363.2:c.1027C>T	NP_001127835.2:p.His343Tyr
XM_011539697.1:c.643C>T	XP_011537999.1:p.His215Tyr
XM_017016103.2:c.862C>T	XP_016871592.1:p.His288Tyr
XM_017016104.2:c.643C>T	XP_016871593.1:p.His215Tyr
NM_001134363.3:c.1027C>T MANE Select	NP_001127835.2:p.His343Tyr