Canonical Allele Identifier: CA378527674
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112404316C>A (hg19) chr10:g.110644558C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644558C>A , CM000672.2:g.110644558C>A GRCh38
NC_000010.10:g.112404316C>A , CM000672.1:g.112404316C>A GRCh37
NC_000010.9:g.112394306C>A NCBI36
NG_021177.1:g.5162C>A , LRG_382:g.5162C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.104C>A MANE Select ENSP00000358532.3:p.Pro35His
ENST00000369519.3:c.104C>A ENSP00000358532.3:p.Pro35His
NM_001134363.2:c.104C>A NP_001127835.2:p.Pro35His
XM_017016103.2:c.26+1118C>A XP_016871592.1:n.26+1118C>A
NM_001134363.3:c.104C>A MANE Select NP_001127835.2:p.Pro35His
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