Canonical Allele Identifier: CA213223631
Gene: RBM20 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783573
ClinVar RCV Id: RCV002423445
dbSNP Id: rs976687779
gnomAD v2: 10-112572124-T-A
gnomAD v3: 10-110812366-T-A
gnomAD v4: 10-110812366-T-A
MyVariant Identifiers: chr10:g.112572124T>A (hg19) chr10:g.110812366T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812366T>A , CM000672.2:g.110812366T>A GRCh38
NC_000010.10:g.112572124T>A , CM000672.1:g.112572124T>A GRCh37
NC_000010.9:g.112562114T>A NCBI36
NG_021177.1:g.172970T>A , LRG_382:g.172970T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1969T>A MANE Select ENSP00000358532.3:p.Ser657Thr
ENST00000369519.3:c.1969T>A ENSP00000358532.3:p.Ser657Thr
NM_001134363.2:c.1969T>A NP_001127835.2:p.Ser657Thr
XM_011539697.1:c.1585T>A XP_011537999.1:p.Ser529Thr
XM_017016103.2:c.1804T>A XP_016871592.1:p.Ser602Thr
XM_017016104.2:c.1585T>A XP_016871593.1:p.Ser529Thr
NM_001134363.3:c.1969T>A MANE Select NP_001127835.2:p.Ser657Thr
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