Canonical Allele Identifier: CA378379226
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1277860461
gnomAD v2: 10-112540623-C-T
gnomAD v4: 10-110780865-C-T
MyVariant Identifiers: chr10:g.112540623C>T (hg19) chr10:g.110780865C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780865C>T , CM000672.2:g.110780865C>T GRCh38
NC_000010.10:g.112540623C>T , CM000672.1:g.112540623C>T GRCh37
NC_000010.9:g.112530613C>T NCBI36
NG_021177.1:g.141469C>T , LRG_382:g.141469C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.256C>T MANE Select ENSP00000358532.3:p.Pro86Ser
ENST00000369519.3:c.256C>T ENSP00000358532.3:p.Pro86Ser
NM_001134363.2:c.256C>T NP_001127835.2:p.Pro86Ser
XM_011539697.1:c.-129C>T XP_011537999.1:n.-129C>T
XM_017016103.2:c.91C>T XP_016871592.1:p.Pro31Ser
XM_017016104.2:c.-129C>T XP_016871593.1:n.-129C>T
NM_001134363.3:c.256C>T MANE Select NP_001127835.2:p.Pro86Ser
Search 100 bp 5'
Search 100 bp 3'