Canonical Allele Identifier: CA378527904
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs766233271
gnomAD v2: 10-112404370-C-T
gnomAD v3: 10-110644612-C-T
gnomAD v4: 10-110644612-C-T
MyVariant Identifiers: chr10:g.112404370C>T (hg19) chr10:g.110644612C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644612C>T , CM000672.2:g.110644612C>T GRCh38
NC_000010.10:g.112404370C>T , CM000672.1:g.112404370C>T GRCh37
NC_000010.9:g.112394360C>T NCBI36
NG_021177.1:g.5216C>T , LRG_382:g.5216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.158C>T MANE Select ENSP00000358532.3:p.Pro53Leu
ENST00000369519.3:c.158C>T ENSP00000358532.3:p.Pro53Leu
NM_001134363.2:c.158C>T NP_001127835.2:p.Pro53Leu
XM_017016103.2:c.26+1172C>T XP_016871592.1:n.26+1172C>T
NM_001134363.3:c.158C>T MANE Select NP_001127835.2:p.Pro53Leu
Search 100 bp 5'
Search 100 bp 3'