Canonical Allele Identifier: CA7256342
Gene: RBM25 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.73105920G>C
GRCh37 chr14:g.73572628G>C
Revel Score:
ENST00000261973 (MANE Select) 0.172
ENST00000527432 0.172
gnomAD v2:
14:73572628 G / C
gnomAD v3:
14:73105920 G / C
gnomAD v4:
chr14-73105920-G-C
Joint Max Group AF 0.00011656 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00012103 (NFE)
ClinVar Allele:
2376284
ClinVar RCV:
RCV004220501
ClinVar Variation:
2387496
dbSNP:
751928947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73105920G>C , CM000676.2:g.73105920G>C GRCh38
NC_000014.8:g.73572628G>C , CM000676.1:g.73572628G>C GRCh37
NC_000014.7:g.72642381G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261973.12:c.1216G>C MANE Select ENSP00000261973.7:p.Glu406Gln
ENST00000261973.11:c.1216G>C ENSP00000261973.7:p.Glu406Gln
ENST00000527432.5:c.1216G>C ENSP00000431150.1:p.Glu406Gln
ENST00000528081.5:c.*768G>C ENSP00000434444.1:n.*768G>C
ENST00000532683.5:n.4836G>C
NM_021239.2:c.1216G>C NP_067062.1:p.Glu406Gln
XM_011537044.1:c.1216G>C XP_011535346.1:p.Glu406Gln
XM_011537045.1:c.601G>C XP_011535347.1:p.Glu201Gln
XR_943501.1:n.1501G>C
XM_011537044.3:c.1216G>C XP_011535346.1:p.Glu406Gln
XM_024449680.1:c.601G>C XP_024305448.1:p.Glu201Gln
XR_943501.3:n.1405G>C
NM_021239.3:c.1216G>C MANE Select NP_067062.1:p.Glu406Gln
Search 100 bp 5'
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