Canonical Allele Identifier: CA1139665890
Community Standard Title: NM_004035.7(ACOX1):c.1479-12A>G
Gene: ACOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75949612T>C , CM000679.2:g.75949612T>C GRCh38
NC_000017.10:g.73945693T>C , CM000679.1:g.73945693T>C GRCh37
NC_000017.9:g.71457288T>C NCBI36
NG_008190.1:g.34752A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004035.7:c.1479-12A>G MANE Select NP_004026.2:n.1479-12A>G
ENST00000293217.10:c.1479-12A>G MANE Select ENSP00000293217.4:n.1479-12A>G
NM_001185039.1:c.1365-12A>G NP_001171968.1:n.1365-12A>G
NM_001185039.2:c.1365-12A>G NP_001171968.1:n.1365-12A>G
NM_004035.6:c.1479-12A>G NP_004026.2:n.1479-12A>G
NM_007292.5:c.1479-12A>G NP_009223.2:n.1479-12A>G
NM_007292.6:c.1479-12A>G NP_009223.2:n.1479-12A>G
ENST00000293217.9:c.1479-12A>G ENSP00000293217.4:n.1479-12A>G
ENST00000301608.8:c.1479-12A>G ENSP00000301608.4:n.1479-12A>G
ENST00000301608.9:c.1479-12A>G ENSP00000301608.4:n.1479-12A>G
ENST00000572047.5:c.1653-12A>G ENSP00000459936.1:n.1653-12A>G
ENST00000573078.5:c.*968-12A>G ENSP00000458325.1:n.*968-12A>G
XM_011524868.1:c.1275-12A>G XP_011523170.1:n.1275-12A>G
XM_011524868.3:c.1275-12A>G XP_011523170.1:n.1275-12A>G
XM_011524869.1:c.1071-12A>G XP_011523171.1:n.1071-12A>G
XM_011524869.3:c.1071-12A>G XP_011523171.1:n.1071-12A>G