Canonical Allele Identifier: CA378370627

Gene: RBM20

Linked Data

• dbSNP Id: rs397516598
• gnomAD v2: 10-112572128-C-T
• gnomAD v4: 10-110812370-C-T
• MyVariant Identifiers: chr10:g.112572128C>T (hg19) ; chr10:g.110812370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812370C>T , CM000672.2:g.110812370C>T	GRCh38
NC_000010.10:g.112572128C>T , CM000672.1:g.112572128C>T	GRCh37
NC_000010.9:g.112562118C>T	NCBI36
NG_021177.1:g.172974C>T , LRG_382:g.172974C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1973C>T MANE Select	ENSP00000358532.3:p.Ser658Phe
ENST00000369519.3:c.1973C>T	ENSP00000358532.3:p.Ser658Phe
NM_001134363.2:c.1973C>T	NP_001127835.2:p.Ser658Phe
XM_011539697.1:c.1589C>T	XP_011537999.1:p.Ser530Phe
XM_017016103.2:c.1808C>T	XP_016871592.1:p.Ser603Phe
XM_017016104.2:c.1589C>T	XP_016871593.1:p.Ser530Phe
NM_001134363.3:c.1973C>T MANE Select	NP_001127835.2:p.Ser658Phe