Canonical Allele Identifier: CA596021842
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1214598286
gnomAD v2: 10-112404206-G-T
gnomAD v3: 10-110644448-G-T
gnomAD v4: 10-110644448-G-T
MyVariant Identifiers: chr10:g.112404206G>T (hg19) chr10:g.110644448G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644448G>T , CM000672.2:g.110644448G>T GRCh38
NC_000010.10:g.112404206G>T , CM000672.1:g.112404206G>T GRCh37
NC_000010.9:g.112394196G>T NCBI36
NG_021177.1:g.5052G>T , LRG_382:g.5052G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.-7G>T MANE Select ENSP00000358532.3:n.-7G>T
ENST00000369519.3:c.-7G>T ENSP00000358532.3:n.-7G>T
NM_001134363.2:c.-7G>T NP_001127835.2:n.-7G>T
XM_017016103.2:c.26+1008G>T XP_016871592.1:n.26+1008G>T
NM_001134363.3:c.-7G>T MANE Select NP_001127835.2:n.-7G>T
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