Canonical Allele Identifier: CA4341908

Gene: RBM48

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92534596G>T , CM000669.2:g.92534596G>T	GRCh38
NC_000007.13:g.92163910G>T , CM000669.1:g.92163910G>T	GRCh37
NC_000007.12:g.92001846G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032120.4:c.643G>T MANE Select	NP_115496.2:p.Gly215Trp
ENST00000265732.10:c.643G>T MANE Select	ENSP00000265732.5:p.Gly215Trp
NM_001363366.1:c.643G>T	NP_001350295.1:p.Gly215Trp
NM_001363367.1:c.118G>T	NP_001350296.1:p.Gly40Trp
NM_032120.2:c.643G>T	NP_115496.2:p.Gly215Trp
NM_032120.3:c.643G>T	NP_115496.2:p.Gly215Trp
ENST00000265732.9:c.643G>T	ENSP00000265732.5:p.Gly215Trp
ENST00000481551.5:c.643G>T	ENSP00000419242.1:p.Gly215Trp
ENST00000617438.1:c.643G>T	ENSP00000478040.1:p.Gly215Trp
XM_005250636.3:c.643G>T	XP_005250693.1:p.Gly215Trp
XM_005250636.5:c.643G>T	XP_005250693.1:p.Gly215Trp
XM_006716149.2:c.643G>T	XP_006716212.1:p.Gly215Trp
XM_006716149.4:c.643G>T	XP_006716212.1:p.Gly215Trp
XM_006716150.2:c.643G>T	XP_006716213.1:p.Gly215Trp
XM_011516619.1:c.*282G>T	XP_011514921.1:n.*282G>T