Canonical Allele Identifier: CA369161905

Gene: RBM28

Linked Data

• MyVariant Identifiers: chr7:g.127970954T>G (hg19) ; chr7:g.128330901T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128330901T>G , CM000669.2:g.128330901T>G	GRCh38
NC_000007.13:g.127970954T>G , CM000669.1:g.127970954T>G	GRCh37
NC_000007.12:g.127758190T>G	NCBI36
NG_015802.1:g.18009A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000223073.6:c.1047A>C MANE Select	ENSP00000223073.1:p.Glu349Asp
ENST00000415472.6:c.624A>C	ENSP00000390517.2:p.Glu208Asp
ENST00000487602.5:c.464A>C
NM_001166135.1:c.624A>C	NP_001159607.1:p.Glu208Asp
NM_018077.2:c.1047A>C	NP_060547.2:p.Glu349Asp
XM_011516370.1:c.1149A>C	XP_011514672.1:p.Glu383Asp
XM_011516371.1:c.53A>C	XP_011514673.1:p.Lys18Thr
XR_927487.1:n.1269A>C
XM_011516370.3:c.1149A>C	XP_011514672.1:p.Glu383Asp
XM_017012389.1:c.1149A>C	XP_016867878.1:p.Glu383Asp
XM_017012390.1:c.1047A>C	XP_016867879.1:p.Glu349Asp
XR_001744830.1:n.1271A>C
NM_001166135.2:c.624A>C	NP_001159607.1:p.Glu208Asp
NM_018077.3:c.1047A>C MANE Select	NP_060547.2:p.Glu349Asp