Canonical Allele Identifier: CA378371896

Gene: RBM20

Linked Data

• gnomAD v4: 10-110812513-C-T
• MyVariant Identifiers: chr10:g.112572271C>T (hg19) ; chr10:g.110812513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812513C>T , CM000672.2:g.110812513C>T	GRCh38
NC_000010.10:g.112572271C>T , CM000672.1:g.112572271C>T	GRCh37
NC_000010.9:g.112562261C>T	NCBI36
NG_021177.1:g.173117C>T , LRG_382:g.173117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2116C>T MANE Select	ENSP00000358532.3:p.Pro706Ser
ENST00000369519.3:c.2116C>T	ENSP00000358532.3:p.Pro706Ser
NM_001134363.2:c.2116C>T	NP_001127835.2:p.Pro706Ser
XM_011539697.1:c.1732C>T	XP_011537999.1:p.Pro578Ser
XM_017016103.2:c.1951C>T	XP_016871592.1:p.Pro651Ser
XM_017016104.2:c.1732C>T	XP_016871593.1:p.Pro578Ser
NM_001134363.3:c.2116C>T MANE Select	NP_001127835.2:p.Pro706Ser