Canonical Allele Identifier: CA378373679
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs2135105967
MyVariant Identifiers: chr10:g.112572539A>C (hg19) chr10:g.110812781A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812781A>C , CM000672.2:g.110812781A>C GRCh38
NC_000010.10:g.112572539A>C , CM000672.1:g.112572539A>C GRCh37
NC_000010.9:g.112562529A>C NCBI36
NG_021177.1:g.173385A>C , LRG_382:g.173385A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.2384A>C MANE Select ENSP00000358532.3:p.His795Pro
ENST00000369519.3:c.2384A>C ENSP00000358532.3:p.His795Pro
NM_001134363.2:c.2384A>C NP_001127835.2:p.His795Pro
XM_011539697.1:c.2000A>C XP_011537999.1:p.His667Pro
XM_017016103.2:c.2219A>C XP_016871592.1:p.His740Pro
XM_017016104.2:c.2000A>C XP_016871593.1:p.His667Pro
NM_001134363.3:c.2384A>C MANE Select NP_001127835.2:p.His795Pro
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