Canonical Allele Identifier: CA2830535107

Gene: ABCE1 OTUD4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145123657G>T , CM000666.2:g.145123657G>T	GRCh38
NC_000004.11:g.146044809G>T , CM000666.1:g.146044809G>T	GRCh37
NC_000004.10:g.146264259G>T	NCBI36
NG_047075.1:g.30654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296577.9:c.1640+57G>T (ABCE1) MANE Select	ENSP00000296577.4:n.1640+57G>T
ENST00000296577.8:c.1640+57G>T (ABCE1)	ENSP00000296577.4:n.1640+57G>T
ENST00000455611.6:n.2207+4289C>A (OTUD4)
ENST00000504683.1:n.529+57G>T (ABCE1)
ENST00000507193.5:c.*584+57G>T (ABCE1)	ENSP00000422068.1:n.*584+57G>T
ENST00000510321.1:n.2255G>T (ABCE1)
ENST00000515678.5:n.717G>T (ABCE1)
NM_001040876.1:c.1640+57G>T (ABCE1)	NP_001035809.1:n.1640+57G>T
NM_002940.2:c.1640+57G>T (ABCE1)	NP_002931.2:n.1640+57G>T
NM_002940.3:c.1640+57G>T (ABCE1) MANE Select	NP_002931.2:n.1640+57G>T
NM_001040876.2:c.1640+57G>T (ABCE1)	NP_001035809.1:n.1640+57G>T