Canonical Allele Identifier: CA378370330

Gene: RBM20

Linked Data

• ClinVar Variation Id: 2626079
• ClinVar RCV Id: RCV003382059
• MyVariant Identifiers: chr10:g.112572067C>G (hg19) ; chr10:g.110812309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812309C>G , CM000672.2:g.110812309C>G	GRCh38
NC_000010.10:g.112572067C>G , CM000672.1:g.112572067C>G	GRCh37
NC_000010.9:g.112562057C>G	NCBI36
NG_021177.1:g.172913C>G , LRG_382:g.172913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.1912C>G MANE Select	ENSP00000358532.3:p.Pro638Ala
ENST00000369519.3:c.1912C>G	ENSP00000358532.3:p.Pro638Ala
NM_001134363.2:c.1912C>G	NP_001127835.2:p.Pro638Ala
XM_011539697.1:c.1528C>G	XP_011537999.1:p.Pro510Ala
XM_017016103.2:c.1747C>G	XP_016871592.1:p.Pro583Ala
XM_017016104.2:c.1528C>G	XP_016871593.1:p.Pro510Ala
NM_001134363.3:c.1912C>G MANE Select	NP_001127835.2:p.Pro638Ala