Canonical Allele Identifier: CA381451134

Gene: RBM14 RBM14-RBM4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66625321T>C , CM000673.2:g.66625321T>C	GRCh38
NC_000011.9:g.66392792T>C , CM000673.1:g.66392792T>C	GRCh37
NC_000011.8:g.66149368T>C	NCBI36
NG_030394.1:g.13740T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310137.5:c.1445T>C (RBM14) MANE Select	ENSP00000311747.5:p.Leu482Pro
ENST00000310137.4:c.1445T>C (RBM14)	ENSP00000311747.4:p.Leu482Pro
ENST00000393979.3:c.448+997T>C (RBM14)	ENSP00000377548.3:n.448+997T>C
ENST00000409738.4:c.338-1140T>C (RBM14)	ENSP00000386995.4:n.338-1140T>C
ENST00000412278.2:c.337+8264T>C (RBM14-RBM4)	ENSP00000388552.2:n.337+8264T>C
ENST00000421355.1:c.337+8264T>C (RBM14-RBM4)	ENSP00000395880.1:n.337+8264T>C
ENST00000500635.2:c.337+8264T>C (RBM14-RBM4)	ENSP00000421279.1:n.337+8264T>C
ENST00000511114.1:n.428+8264T>C (RBM14-RBM4)
NM_001198836.1:c.448+997T>C (RBM14)	NP_001185765.1:n.448+997T>C
NM_001198837.1:c.338-1140T>C (RBM14)	NP_001185766.1:n.338-1140T>C
NM_001198845.1:c.337+8264T>C (RBM14-RBM4)	NP_001185774.1:n.337+8264T>C
NM_001198846.1:c.337+8264T>C (RBM14-RBM4)	NP_001185775.1:n.337+8264T>C
NM_006328.3:c.1445T>C (RBM14)	NP_006319.1:p.Leu482Pro
NM_001198836.2:c.448+997T>C (RBM14)	NP_001185765.1:n.448+997T>C
NM_001198837.2:c.338-1140T>C (RBM14)	NP_001185766.1:n.338-1140T>C
NM_006328.4:c.1445T>C (RBM14) MANE Select	NP_006319.1:p.Leu482Pro
NM_001198845.2:c.337+8264T>C (RBM14-RBM4)	NP_001185774.1:n.337+8264T>C
NM_001198846.2:c.337+8264T>C (RBM14-RBM4)	NP_001185775.1:n.337+8264T>C