Canonical Allele Identifier: CA4341915

Gene: RBM48

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92534663A>G , CM000669.2:g.92534663A>G	GRCh38
NC_000007.13:g.92163977A>G , CM000669.1:g.92163977A>G	GRCh37
NC_000007.12:g.92001913A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032120.4:c.710A>G MANE Select	NP_115496.2:p.His237Arg
ENST00000265732.10:c.710A>G MANE Select	ENSP00000265732.5:p.His237Arg
NM_001363366.1:c.710A>G	NP_001350295.1:p.His237Arg
NM_001363367.1:c.185A>G	NP_001350296.1:p.His62Arg
NM_032120.2:c.710A>G	NP_115496.2:p.His237Arg
NM_032120.3:c.710A>G	NP_115496.2:p.His237Arg
ENST00000265732.9:c.710A>G	ENSP00000265732.5:p.His237Arg
ENST00000481551.5:c.710A>G	ENSP00000419242.1:p.His237Arg
ENST00000617438.1:c.710A>G	ENSP00000478040.1:p.His237Arg
XM_005250636.3:c.710A>G	XP_005250693.1:p.His237Arg
XM_005250636.5:c.710A>G	XP_005250693.1:p.His237Arg
XM_006716149.2:c.710A>G	XP_006716212.1:p.His237Arg
XM_006716149.4:c.710A>G	XP_006716212.1:p.His237Arg
XM_006716150.2:c.710A>G	XP_006716213.1:p.His237Arg