Canonical Allele Identifier: CA352872765
Community Standard Title: NM_005778.4(RBM5):c.363C>A (p.Phe121Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50100005C>A , CM000665.2:g.50100005C>A GRCh38
NC_000003.11:g.50137438C>A , CM000665.1:g.50137438C>A GRCh37
NC_000003.10:g.50112442C>A NCBI36
NG_030403.1:g.16098C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005778.4:c.363C>A (RBM5) MANE Select NP_005769.1:p.Phe121Leu
ENST00000347869.8:c.363C>A (RBM5) MANE Select ENSP00000343054.3:p.Phe121Leu
NM_005778.3:c.363C>A (RBM5) NP_005769.1:p.Phe121Leu
NR_036627.2:n.538C>A (RBM5)
NR_036627.3:n.527C>A (RBM5)
NR_045388.1:n.984G>T (RBM5-AS1)
ENST00000347869.7:c.363C>A (RBM5) ENSP00000343054.3:p.Phe121Leu
ENST00000395174.6:c.182C>A (RBM5) ENSP00000378603.2:n.182C>A
ENST00000404526.6:c.271C>A (RBM5) ENSP00000384872.2:p.Arg91=
ENST00000433556.6:n.400C>A (RBM5)
ENST00000434592.5:c.*1383C>A (RBM6) ENSP00000399942.1:n.*1383C>A
ENST00000438369.5:c.*181C>A (RBM5) ENSP00000414218.1:n.*181C>A
ENST00000441305.5:c.363C>A (RBM5) ENSP00000390711.1:p.Phe121Leu
ENST00000464087.6:n.483C>A (RBM5)
ENST00000469838.5:c.363C>A (RBM5) ENSP00000419534.1:p.Phe121Leu
XM_006712917.1:c.363C>A (RBM5) XP_006712980.1:p.Phe121Leu
XM_006712917.2:c.363C>A (RBM5) XP_006712980.1:p.Phe121Leu
XM_006712919.1:c.-318C>A (RBM5) XP_006712982.1:n.-318C>A
XM_011533261.1:c.363C>A (RBM5) XP_011531563.1:p.Phe121Leu
XM_011533261.2:c.363C>A (RBM5) XP_011531563.1:p.Phe121Leu
XM_011533262.1:c.363C>A (RBM5) XP_011531564.1:p.Phe121Leu
XM_011533262.2:c.363C>A (RBM5) XP_011531564.1:p.Phe121Leu
XM_017005503.1:c.363C>A (RBM5) XP_016860992.1:p.Phe121Leu
XM_017005504.2:c.363C>A (RBM5) XP_016860993.1:p.Phe121Leu
XM_017005505.1:c.-318C>A (RBM5) XP_016860994.1:n.-318C>A
XM_024453289.1:c.-244C>A (RBM5) XP_024309057.1:n.-244C>A
XM_024453290.1:c.-3275C>A (RBM5) XP_024309058.1:n.-3275C>A
XR_427245.1:n.538C>A (RBM5)
XR_427245.2:n.527C>A (RBM5)