Canonical Allele Identifier: CA378371832

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812507-A-C
• MyVariant Identifiers: chr10:g.112572265A>C (hg19) ; chr10:g.110812507A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812507A>C , CM000672.2:g.110812507A>C	GRCh38
NC_000010.10:g.112572265A>C , CM000672.1:g.112572265A>C	GRCh37
NC_000010.9:g.112562255A>C	NCBI36
NG_021177.1:g.173111A>C , LRG_382:g.173111A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2110A>C MANE Select	ENSP00000358532.3:p.Met704Leu
ENST00000369519.3:c.2110A>C	ENSP00000358532.3:p.Met704Leu
NM_001134363.2:c.2110A>C	NP_001127835.2:p.Met704Leu
XM_011539697.1:c.1726A>C	XP_011537999.1:p.Met576Leu
XM_017016103.2:c.1945A>C	XP_016871592.1:p.Met649Leu
XM_017016104.2:c.1726A>C	XP_016871593.1:p.Met576Leu
NM_001134363.3:c.2110A>C MANE Select	NP_001127835.2:p.Met704Leu