Canonical Allele Identifier: CA378370440
Gene: RBM20 HGNC NCBI

Linked Data

gnomAD v4: 10-110812336-T-A
MyVariant Identifiers: chr10:g.112572094T>A (hg19) chr10:g.110812336T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812336T>A , CM000672.2:g.110812336T>A GRCh38
NC_000010.10:g.112572094T>A , CM000672.1:g.112572094T>A GRCh37
NC_000010.9:g.112562084T>A NCBI36
NG_021177.1:g.172940T>A , LRG_382:g.172940T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1939T>A MANE Select ENSP00000358532.3:p.Ser647Thr
ENST00000369519.3:c.1939T>A ENSP00000358532.3:p.Ser647Thr
NM_001134363.2:c.1939T>A NP_001127835.2:p.Ser647Thr
XM_011539697.1:c.1555T>A XP_011537999.1:p.Ser519Thr
XM_017016103.2:c.1774T>A XP_016871592.1:p.Ser592Thr
XM_017016104.2:c.1555T>A XP_016871593.1:p.Ser519Thr
NM_001134363.3:c.1939T>A MANE Select NP_001127835.2:p.Ser647Thr
Search 100 bp 5'
Search 100 bp 3'