Canonical Allele Identifier: CA161982375

Gene: RBM48

Linked Data

• ClinVar Variation Id: 1435189
• ClinVar RCV Id: RCV001984820
• dbSNP Id: rs868085721
• MyVariant Identifiers: chr7:g.92158197C>T (hg19) ; chr7:g.92528883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92528883C>T , CM000669.2:g.92528883C>T	GRCh38
NC_000007.13:g.92158197C>T , CM000669.1:g.92158197C>T	GRCh37
NC_000007.12:g.91996133C>T	NCBI36
NG_008341.1:g.4649G>A
NG_008341.2:g.4649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265732.10:c.70C>T MANE Select	ENSP00000265732.5:p.Arg24Trp
ENST00000265732.9:c.70C>T	ENSP00000265732.5:p.Arg24Trp
ENST00000481551.5:c.70C>T	ENSP00000419242.1:p.Arg24Trp
ENST00000496410.1:c.-364C>T	ENSP00000418333.1:n.-364C>T
ENST00000617438.1:c.70C>T	ENSP00000478040.1:p.Arg24Trp
NM_032120.2:c.70C>T	NP_115496.2:p.Arg24Trp
XM_005250636.3:c.70C>T	XP_005250693.1:p.Arg24Trp
XM_006716149.2:c.70C>T	XP_006716212.1:p.Arg24Trp
XM_006716150.2:c.70C>T	XP_006716213.1:p.Arg24Trp
XM_011516619.1:c.70C>T	XP_011514921.1:p.Arg24Trp
NM_001363366.1:c.70C>T	NP_001350295.1:p.Arg24Trp
NM_001363367.1:c.-620C>T	NP_001350296.1:n.-620C>T
NM_032120.3:c.70C>T	NP_115496.2:p.Arg24Trp
XM_005250636.5:c.70C>T	XP_005250693.1:p.Arg24Trp
XM_006716149.4:c.70C>T	XP_006716212.1:p.Arg24Trp
NM_032120.4:c.70C>T MANE Select	NP_115496.2:p.Arg24Trp