Canonical Allele Identifier: CA907938908

Linked Data

dbSNP Id: rs1462568110
gnomAD v3: 3-50091989-T-C
gnomAD v4: 3-50091989-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50091989T>C , CM000665.2:g.50091989T>C GRCh38
NC_000003.11:g.50129422T>C , CM000665.1:g.50129422T>C GRCh37
NC_000003.10:g.50104426T>C NCBI36
NG_030403.1:g.8082T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000347869.8:c.18-54T>C (RBM5) MANE Select ENSP00000343054.3:n.18-54T>C
ENST00000347869.7:c.18-54T>C (RBM5) ENSP00000343054.3:n.18-54T>C
ENST00000404526.6:c.18-54T>C (RBM5) ENSP00000384872.2:n.18-54T>C
ENST00000417905.1:c.18-54T>C (RBM5) ENSP00000406119.1:n.18-54T>C
ENST00000433556.6:n.147-54T>C (RBM5)
ENST00000434592.5:c.*1038-54T>C (RBM6) ENSP00000399942.1:n.*1038-54T>C
ENST00000437500.5:c.18-54T>C (RBM5) ENSP00000394622.1:n.18-54T>C
ENST00000438369.5:c.18-54T>C (RBM5) ENSP00000414218.1:n.18-54T>C
ENST00000441305.5:c.18-54T>C (RBM5) ENSP00000390711.1:n.18-54T>C
ENST00000464087.6:n.138-54T>C (RBM5)
ENST00000469838.5:c.18-54T>C (RBM5) ENSP00000419534.1:n.18-54T>C
ENST00000492472.1:n.126-54T>C (RBM5)
NM_005778.3:c.18-54T>C (RBM5) NP_005769.1:n.18-54T>C
NR_036627.2:n.193-54T>C (RBM5)
XM_006712917.1:c.18-54T>C (RBM5) XP_006712980.1:n.18-54T>C
XM_011533261.1:c.18-54T>C (RBM5) XP_011531563.1:n.18-54T>C
XM_011533262.1:c.18-54T>C (RBM5) XP_011531564.1:n.18-54T>C
XR_427245.1:n.193-54T>C (RBM5)
XM_006712917.2:c.18-54T>C (RBM5) XP_006712980.1:n.18-54T>C
XM_011533261.2:c.18-54T>C (RBM5) XP_011531563.1:n.18-54T>C
XM_011533262.2:c.18-54T>C (RBM5) XP_011531564.1:n.18-54T>C
XM_017005503.1:c.18-54T>C (RBM5) XP_016860992.1:n.18-54T>C
XM_017005504.2:c.18-54T>C (RBM5) XP_016860993.1:n.18-54T>C
XM_017005505.1:c.-663-54T>C (RBM5) XP_016860994.1:n.-663-54T>C
XM_024453289.1:c.-589-54T>C (RBM5) XP_024309057.1:n.-589-54T>C
XM_024453290.1:c.-3620-54T>C (RBM5) XP_024309058.1:n.-3620-54T>C
XR_427245.2:n.182-54T>C (RBM5)
NM_005778.4:c.18-54T>C (RBM5) MANE Select NP_005769.1:n.18-54T>C
NR_036627.3:n.182-54T>C (RBM5)