Canonical Allele Identifier: CA352869175

Gene: RBM5 RBM6

Linked Data

• gnomAD v4: 3-50092075-G-C
• MyVariant Identifiers: chr3:g.50129508G>C (hg19) ; chr3:g.50092075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50092075G>C , CM000665.2:g.50092075G>C	GRCh38
NC_000003.11:g.50129508G>C , CM000665.1:g.50129508G>C	GRCh37
NC_000003.10:g.50104512G>C	NCBI36
NG_030403.1:g.8168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347869.8:c.50G>C (RBM5) MANE Select	ENSP00000343054.3:p.Gly17Ala
ENST00000347869.7:c.50G>C (RBM5)	ENSP00000343054.3:p.Gly17Ala
ENST00000404526.6:c.50G>C (RBM5)	ENSP00000384872.2:p.Gly17Ala
ENST00000417905.1:c.50G>C (RBM5)	ENSP00000406119.1:p.Gly17Ala
ENST00000433556.6:n.179G>C (RBM5)
ENST00000434592.5:c.*1070G>C (RBM6)	ENSP00000399942.1:n.*1070G>C
ENST00000437500.5:c.50G>C (RBM5)	ENSP00000394622.1:p.Gly17Ala
ENST00000438369.5:c.50G>C (RBM5)	ENSP00000414218.1:p.Gly17Ala
ENST00000441305.5:c.50G>C (RBM5)	ENSP00000390711.1:p.Gly17Ala
ENST00000464087.6:n.170G>C (RBM5)
ENST00000469838.5:c.50G>C (RBM5)	ENSP00000419534.1:p.Gly17Ala
ENST00000492472.1:n.158G>C (RBM5)
NM_005778.3:c.50G>C (RBM5)	NP_005769.1:p.Gly17Ala
NR_036627.2:n.225G>C (RBM5)
XM_006712917.1:c.50G>C (RBM5)	XP_006712980.1:p.Gly17Ala
XM_011533261.1:c.50G>C (RBM5)	XP_011531563.1:p.Gly17Ala
XM_011533262.1:c.50G>C (RBM5)	XP_011531564.1:p.Gly17Ala
XR_427245.1:n.225G>C (RBM5)
XM_006712917.2:c.50G>C (RBM5)	XP_006712980.1:p.Gly17Ala
XM_011533261.2:c.50G>C (RBM5)	XP_011531563.1:p.Gly17Ala
XM_011533262.2:c.50G>C (RBM5)	XP_011531564.1:p.Gly17Ala
XM_017005503.1:c.50G>C (RBM5)	XP_016860992.1:p.Gly17Ala
XM_017005504.2:c.50G>C (RBM5)	XP_016860993.1:p.Gly17Ala
XM_017005505.1:c.-631G>C (RBM5)	XP_016860994.1:n.-631G>C
XM_024453289.1:c.-557G>C (RBM5)	XP_024309057.1:n.-557G>C
XM_024453290.1:c.-3588G>C (RBM5)	XP_024309058.1:n.-3588G>C
XR_427245.2:n.214G>C (RBM5)
NM_005778.4:c.50G>C (RBM5) MANE Select	NP_005769.1:p.Gly17Ala
NR_036627.3:n.214G>C (RBM5)