Canonical Allele Identifier: CA433677789

Linked Data

MyVariant Identifiers: chr3:g.50129548C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50092115C>A , CM000665.2:g.50092115C>A GRCh38
NC_000003.11:g.50129548C>A , CM000665.1:g.50129548C>A GRCh37
NC_000003.10:g.50104552C>A NCBI36
NG_030403.1:g.8208C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347869.8:c.90C>A (RBM5) MANE Select ENSP00000343054.3:p.Ser30=
ENST00000347869.7:c.90C>A (RBM5) ENSP00000343054.3:p.Ser30=
ENST00000404526.6:c.90C>A (RBM5) ENSP00000384872.2:p.Ser30=
ENST00000417905.1:c.90C>A (RBM5) ENSP00000406119.1:p.Ser30=
ENST00000433556.6:n.219C>A (RBM5)
ENST00000434592.5:c.*1110C>A (RBM6) ENSP00000399942.1:n.*1110C>A
ENST00000437500.5:c.90C>A (RBM5) ENSP00000394622.1:p.Ser30=
ENST00000438369.5:c.90C>A (RBM5) ENSP00000414218.1:p.Ser30=
ENST00000441305.5:c.90C>A (RBM5) ENSP00000390711.1:p.Ser30=
ENST00000464087.6:n.210C>A (RBM5)
ENST00000469838.5:c.90C>A (RBM5) ENSP00000419534.1:p.Ser30=
ENST00000492472.1:n.198C>A (RBM5)
NM_005778.3:c.90C>A (RBM5) NP_005769.1:p.Ser30=
NR_036627.2:n.265C>A (RBM5)
XM_006712917.1:c.90C>A (RBM5) XP_006712980.1:p.Ser30=
XM_011533261.1:c.90C>A (RBM5) XP_011531563.1:p.Ser30=
XM_011533262.1:c.90C>A (RBM5) XP_011531564.1:p.Ser30=
XR_427245.1:n.265C>A (RBM5)
XM_006712917.2:c.90C>A (RBM5) XP_006712980.1:p.Ser30=
XM_011533261.2:c.90C>A (RBM5) XP_011531563.1:p.Ser30=
XM_011533262.2:c.90C>A (RBM5) XP_011531564.1:p.Ser30=
XM_017005503.1:c.90C>A (RBM5) XP_016860992.1:p.Ser30=
XM_017005504.2:c.90C>A (RBM5) XP_016860993.1:p.Ser30=
XM_017005505.1:c.-591C>A (RBM5) XP_016860994.1:n.-591C>A
XM_024453289.1:c.-517C>A (RBM5) XP_024309057.1:n.-517C>A
XM_024453290.1:c.-3548C>A (RBM5) XP_024309058.1:n.-3548C>A
XR_427245.2:n.254C>A (RBM5)
NM_005778.4:c.90C>A (RBM5) MANE Select NP_005769.1:p.Ser30=
NR_036627.3:n.254C>A (RBM5)