Canonical Allele Identifier: CA174159

Gene: ABCE1 OTUD4

Linked Data

• ClinVar Variation Id: 161505
• ClinVar RCV Id: RCV000149039
• dbSNP Id: rs193920849
• COSMIC: COSM1179716
• MyVariant Identifiers: chr4:g.146032214T>G (hg19) ; chr4:g.145111062T>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145111062T>G , CM000666.2:g.145111062T>G	GRCh38
NC_000004.11:g.146032214T>G , CM000666.1:g.146032214T>G	GRCh37
NC_000004.10:g.146251664T>G	NCBI36
NG_047075.1:g.18059T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296577.9:c.708T>G (ABCE1) MANE Select	ENSP00000296577.4:p.Asp236Glu
ENST00000296577.8:c.708T>G (ABCE1)	ENSP00000296577.4:p.Asp236Glu
ENST00000455611.6:n.2274A>C (OTUD4)
ENST00000502803.5:n.239+6547T>G (ABCE1)
ENST00000504292.1:c.412+618T>G (ABCE1)	ENSP00000423415.1:n.412+618T>G
ENST00000506506.5:n.107-11959T>G (ABCE1)
ENST00000507193.5:c.708T>G (ABCE1)	ENSP00000422068.1:p.Asp236Glu
NM_001040876.1:c.708T>G (ABCE1)	NP_001035809.1:p.Asp236Glu
NM_002940.2:c.708T>G (ABCE1)	NP_002931.2:p.Asp236Glu
NM_002940.3:c.708T>G (ABCE1) MANE Select	NP_002931.2:p.Asp236Glu
NM_001040876.2:c.708T>G (ABCE1)	NP_001035809.1:p.Asp236Glu