Canonical Allele Identifier: CA2816611288

Gene: RNF114

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49938170A>G , CM000682.2:g.49938170A>G	GRCh38
NC_000020.10:g.48554707A>G , CM000682.1:g.48554707A>G	GRCh37
NC_000020.9:g.47988114A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244061.6:c.140+1618A>G MANE Select	ENSP00000244061.2:n.140+1618A>G
ENST00000244061.5:c.140+1618A>G	ENSP00000244061.2:n.140+1618A>G
ENST00000622920.1:c.140+1618A>G	ENSP00000485317.1:n.140+1618A>G
ENST00000622999.3:c.140+1618A>G	ENSP00000485203.1:n.140+1618A>G
ENST00000623528.3:c.140+1618A>G	ENSP00000485136.1:n.140+1618A>G
ENST00000623732.3:c.140+1618A>G	ENSP00000485575.1:n.140+1618A>G
ENST00000624620.1:n.154+1618A>G
ENST00000625177.3:c.140+1618A>G	ENSP00000485239.1:n.140+1618A>G
NM_018683.3:c.140+1618A>G	NP_061153.1:n.140+1618A>G
NM_018683.4:c.140+1618A>G MANE Select	NP_061153.1:n.140+1618A>G