Canonical Allele Identifier: CA2610892494
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110810334-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110810334G>C , CM000672.2:g.110810334G>C GRCh38
NC_000010.10:g.112570092G>C , CM000672.1:g.112570092G>C GRCh37
NC_000010.9:g.112560082G>C NCBI36
NG_021177.1:g.170938G>C , LRG_382:g.170938G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.1801-49G>C MANE Select ENSP00000358532.3:n.1801-49G>C
ENST00000369519.3:c.1801-49G>C ENSP00000358532.3:n.1801-49G>C
NM_001134363.2:c.1801-49G>C NP_001127835.2:n.1801-49G>C
XM_011539697.1:c.1417-49G>C XP_011537999.1:n.1417-49G>C
XM_017016103.2:c.1636-49G>C XP_016871592.1:n.1636-49G>C
XM_017016104.2:c.1417-49G>C XP_016871593.1:n.1417-49G>C
NM_001134363.3:c.1801-49G>C MANE Select NP_001127835.2:n.1801-49G>C
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