Canonical Allele Identifier: CA368208905

Gene: RBM48

Linked Data

• ClinVar Variation Id: 2778566
• ClinVar RCV Id: RCV003661561
• MyVariant Identifiers: chr7:g.92161785G>C (hg19) ; chr7:g.92532471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92532471G>C , CM000669.2:g.92532471G>C	GRCh38
NC_000007.13:g.92161785G>C , CM000669.1:g.92161785G>C	GRCh37
NC_000007.12:g.91999721G>C	NCBI36
NG_008341.1:g.1061C>G
NG_008341.2:g.1061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265732.10:c.370G>C MANE Select	ENSP00000265732.5:p.Glu124Gln
ENST00000265732.9:c.370G>C	ENSP00000265732.5:p.Glu124Gln
ENST00000481551.5:c.370G>C	ENSP00000419242.1:p.Glu124Gln
ENST00000496410.1:c.196G>C	ENSP00000418333.1:p.Glu66Gln
ENST00000617438.1:c.370G>C	ENSP00000478040.1:p.Glu124Gln
NM_032120.2:c.370G>C	NP_115496.2:p.Glu124Gln
XM_005250636.3:c.370G>C	XP_005250693.1:p.Glu124Gln
XM_006716149.2:c.370G>C	XP_006716212.1:p.Glu124Gln
XM_006716150.2:c.370G>C	XP_006716213.1:p.Glu124Gln
XM_011516619.1:c.370G>C	XP_011514921.1:p.Glu124Gln
NM_001363366.1:c.370G>C	NP_001350295.1:p.Glu124Gln
NM_001363367.1:c.-320G>C	NP_001350296.1:n.-320G>C
NM_032120.3:c.370G>C	NP_115496.2:p.Glu124Gln
XM_005250636.5:c.370G>C	XP_005250693.1:p.Glu124Gln
XM_006716149.4:c.370G>C	XP_006716212.1:p.Glu124Gln
NM_032120.4:c.370G>C MANE Select	NP_115496.2:p.Glu124Gln