Canonical Allele Identifier: CA401084113
Community Standard Title: NM_004035.7(ACOX1):c.110-2A>G
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75978695T>C , CM000679.2:g.75978695T>C GRCh38
NC_000017.10:g.73974776T>C , CM000679.1:g.73974776T>C GRCh37
NC_000017.9:g.71486371T>C NCBI36
NG_008190.1:g.5669A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.110-2A>G MANE Select NP_004026.2:n.110-2A>G
ENST00000293217.10:c.110-2A>G MANE Select ENSP00000293217.4:n.110-2A>G
NM_001185039.1:c.-5-2A>G NP_001171968.1:n.-5-2A>G
NM_001185039.2:c.-5-2A>G NP_001171968.1:n.-5-2A>G
NM_004035.6:c.110-2A>G NP_004026.2:n.110-2A>G
NM_007292.5:c.110-2A>G NP_009223.2:n.110-2A>G
NM_007292.6:c.110-2A>G NP_009223.2:n.110-2A>G
ENST00000293217.9:c.110-2A>G ENSP00000293217.4:n.110-2A>G
ENST00000301608.8:c.110-2A>G ENSP00000301608.4:n.110-2A>G
ENST00000301608.9:c.110-2A>G ENSP00000301608.4:n.110-2A>G
ENST00000572047.5:c.284-2A>G ENSP00000459936.1:n.284-2A>G
ENST00000573078.5:c.110-2A>G ENSP00000458325.1:n.110-2A>G
ENST00000588176.5:c.110-2A>G ENSP00000466210.1:n.110-2A>G
ENST00000589301.1:c.*68-2A>G ENSP00000468435.1:n.*68-2A>G
ENST00000591857.5:n.128-2A>G
ENST00000592329.1:n.82-2A>G
XM_011524868.1:c.-256-2A>G XP_011523170.1:n.-256-2A>G
XM_011524868.3:c.-256-2A>G XP_011523170.1:n.-256-2A>G
XM_011524869.1:c.-138-2A>G XP_011523171.1:n.-138-2A>G
XM_011524869.3:c.-138-2A>G XP_011523171.1:n.-138-2A>G