Canonical Allele Identifier: CA5688657
Gene: RBM20 HGNC NCBI

Linked Data

dbSNP Id: rs757770185
ExAC: 10:112572144 C / T
gnomAD v2: 10-112572144-C-T
gnomAD v4: 10-110812386-C-T
MyVariant Identifiers: chr10:g.112572144C>T (hg19) chr10:g.110812386C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110812386C>T , CM000672.2:g.110812386C>T GRCh38
NC_000010.10:g.112572144C>T , CM000672.1:g.112572144C>T GRCh37
NC_000010.9:g.112562134C>T NCBI36
NG_021177.1:g.172990C>T , LRG_382:g.172990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369519.4:c.1989C>T MANE Select ENSP00000358532.3:p.Gly663=
ENST00000369519.3:c.1989C>T ENSP00000358532.3:p.Gly663=
NM_001134363.2:c.1989C>T NP_001127835.2:p.Gly663=
XM_011539697.1:c.1605C>T XP_011537999.1:p.Gly535=
XM_017016103.2:c.1824C>T XP_016871592.1:p.Gly608=
XM_017016104.2:c.1605C>T XP_016871593.1:p.Gly535=
NM_001134363.3:c.1989C>T MANE Select NP_001127835.2:p.Gly663=
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