Canonical Allele Identifier: CA6126764

Gene: RBM14 RBM14-RBM4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66624603G>A , CM000673.2:g.66624603G>A	GRCh38
NC_000011.9:g.66392074G>A , CM000673.1:g.66392074G>A	GRCh37
NC_000011.8:g.66148650G>A	NCBI36
NG_030394.1:g.13022G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006328.4:c.727G>A (RBM14) MANE Select	NP_006319.1:p.Val243Met
ENST00000310137.5:c.727G>A (RBM14) MANE Select	ENSP00000311747.5:p.Val243Met
NM_001198836.1:c.448+279G>A (RBM14)	NP_001185765.1:n.448+279G>A
NM_001198836.2:c.448+279G>A (RBM14)	NP_001185765.1:n.448+279G>A
NM_001198837.1:c.338-1858G>A (RBM14)	NP_001185766.1:n.338-1858G>A
NM_001198837.2:c.338-1858G>A (RBM14)	NP_001185766.1:n.338-1858G>A
NM_001198845.1:c.337+7546G>A (RBM14-RBM4)	NP_001185774.1:n.337+7546G>A
NM_001198845.2:c.337+7546G>A (RBM14-RBM4)	NP_001185774.1:n.337+7546G>A
NM_001198846.1:c.337+7546G>A (RBM14-RBM4)	NP_001185775.1:n.337+7546G>A
NM_001198846.2:c.337+7546G>A (RBM14-RBM4)	NP_001185775.1:n.337+7546G>A
NM_006328.3:c.727G>A (RBM14)	NP_006319.1:p.Val243Met
ENST00000310137.4:c.727G>A (RBM14)	ENSP00000311747.4:p.Val243Met
ENST00000393979.3:c.448+279G>A (RBM14)	ENSP00000377548.3:n.448+279G>A
ENST00000409738.4:c.338-1858G>A (RBM14)	ENSP00000386995.4:n.338-1858G>A
ENST00000412278.2:c.337+7546G>A (RBM14-RBM4)	ENSP00000388552.2:n.337+7546G>A
ENST00000421355.1:c.337+7546G>A (RBM14-RBM4)	ENSP00000395880.1:n.337+7546G>A
ENST00000500635.2:c.337+7546G>A (RBM14-RBM4)	ENSP00000421279.1:n.337+7546G>A
ENST00000511114.1:n.428+7546G>A (RBM14-RBM4)