Canonical Allele Identifier: CA471506579

Gene: RBM20

Linked Data

• dbSNP Id: rs1271448007
• gnomAD v2: 10-112540616-T-C
• MyVariant Identifiers: chr10:g.112540616T>C (hg19) ; chr10:g.110780858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110780858T>C , CM000672.2:g.110780858T>C	GRCh38
NC_000010.10:g.112540616T>C , CM000672.1:g.112540616T>C	GRCh37
NC_000010.9:g.112530606T>C	NCBI36
NG_021177.1:g.141462T>C , LRG_382:g.141462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.249T>C MANE Select	ENSP00000358532.3:p.Leu83=
ENST00000369519.3:c.249T>C	ENSP00000358532.3:p.Leu83=
NM_001134363.2:c.249T>C	NP_001127835.2:p.Leu83=
XM_011539697.1:c.-136T>C	XP_011537999.1:n.-136T>C
XM_017016103.2:c.84T>C	XP_016871592.1:p.Leu28=
XM_017016104.2:c.-136T>C	XP_016871593.1:n.-136T>C
NM_001134363.3:c.249T>C MANE Select	NP_001127835.2:p.Leu83=