Canonical Allele Identifier: CA378370539

Gene: RBM20

Linked Data

• ClinVar Variation Id: 2573457
• ClinVar RCV Id: RCV003317793
• MyVariant Identifiers: chr10:g.112572116C>T (hg19) ; chr10:g.110812358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812358C>T , CM000672.2:g.110812358C>T	GRCh38
NC_000010.10:g.112572116C>T , CM000672.1:g.112572116C>T	GRCh37
NC_000010.9:g.112562106C>T	NCBI36
NG_021177.1:g.172962C>T , LRG_382:g.172962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1961C>T MANE Select	ENSP00000358532.3:p.Ser654Phe
ENST00000369519.3:c.1961C>T	ENSP00000358532.3:p.Ser654Phe
NM_001134363.2:c.1961C>T	NP_001127835.2:p.Ser654Phe
XM_011539697.1:c.1577C>T	XP_011537999.1:p.Ser526Phe
XM_017016103.2:c.1796C>T	XP_016871592.1:p.Ser599Phe
XM_017016104.2:c.1577C>T	XP_016871593.1:p.Ser526Phe
NM_001134363.3:c.1961C>T MANE Select	NP_001127835.2:p.Ser654Phe