Canonical Allele Identifier: CA471506578
Gene: RBM20 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.112540616T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110780858T>G , CM000672.2:g.110780858T>G GRCh38
NC_000010.10:g.112540616T>G , CM000672.1:g.112540616T>G GRCh37
NC_000010.9:g.112530606T>G NCBI36
NG_021177.1:g.141462T>G , LRG_382:g.141462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.249T>G MANE Select ENSP00000358532.3:p.Leu83=
ENST00000369519.3:c.249T>G ENSP00000358532.3:p.Leu83=
NM_001134363.2:c.249T>G NP_001127835.2:p.Leu83=
XM_011539697.1:c.-136T>G XP_011537999.1:n.-136T>G
XM_017016103.2:c.84T>G XP_016871592.1:p.Leu28=
XM_017016104.2:c.-136T>G XP_016871593.1:n.-136T>G
NM_001134363.3:c.249T>G MANE Select NP_001127835.2:p.Leu83=