Canonical Allele Identifier: CA378527455
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs1286794830
gnomAD v2: 10-112404270-G-T
gnomAD v3: 10-110644512-G-T
gnomAD v4: 10-110644512-G-T
MyVariant Identifiers: chr10:g.112404270G>T (hg19) chr10:g.110644512G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110644512G>T , CM000672.2:g.110644512G>T GRCh38
NC_000010.10:g.112404270G>T , CM000672.1:g.112404270G>T GRCh37
NC_000010.9:g.112394260G>T NCBI36
NG_021177.1:g.5116G>T , LRG_382:g.5116G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369519.4:c.58G>T MANE Select ENSP00000358532.3:p.Asp20Tyr
ENST00000369519.3:c.58G>T ENSP00000358532.3:p.Asp20Tyr
NM_001134363.2:c.58G>T NP_001127835.2:p.Asp20Tyr
XM_017016103.2:c.26+1072G>T XP_016871592.1:n.26+1072G>T
NM_001134363.3:c.58G>T MANE Select NP_001127835.2:p.Asp20Tyr
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