Canonical Allele Identifier: CA92112265
Gene: ACOX3 HGNC NCBI

Linked Data

dbSNP Id: rs983566874
gnomAD v3: 4-8388618-T-C
gnomAD v4: 4-8388618-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.8388618T>C , CM000666.2:g.8388618T>C GRCh38
NC_000004.11:g.8390345T>C , CM000666.1:g.8390345T>C GRCh37
NC_000004.10:g.8441245T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356406.10:c.1537+555A>G MANE Select ENSP00000348775.4:n.1537+555A>G
ENST00000356406.9:c.1537+555A>G ENSP00000348775.4:n.1537+555A>G
ENST00000413009.6:c.1537+555A>G ENSP00000413994.2:n.1537+555A>G
ENST00000503233.5:c.1537+555A>G ENSP00000421625.1:n.1537+555A>G
ENST00000508302.1:n.522+555A>G
ENST00000510365.5:n.1249+555A>G
NM_001101667.1:c.1537+555A>G NP_001095137.1:n.1537+555A>G
NM_003501.2:c.1537+555A>G NP_003492.2:n.1537+555A>G
XM_005248011.3:c.1537+555A>G XP_005248068.1:n.1537+555A>G
XM_005248012.3:c.1537+555A>G XP_005248069.1:n.1537+555A>G
XM_005248013.3:c.1537+555A>G XP_005248070.1:n.1537+555A>G
XM_011513565.1:c.1537+555A>G XP_011511867.1:n.1537+555A>G
XM_011513566.1:c.1537+555A>G XP_011511868.1:n.1537+555A>G
XM_011513567.1:c.1538-246A>G XP_011511869.1:n.1538-246A>G
XR_925000.1:n.1682+555A>G
XM_005248011.4:c.1537+555A>G XP_005248068.1:n.1537+555A>G
XM_011513565.2:c.1537+555A>G XP_011511867.1:n.1537+555A>G
XM_024454237.1:c.1538-246A>G XP_024310005.1:n.1538-246A>G
NM_003501.3:c.1537+555A>G MANE Select NP_003492.2:n.1537+555A>G
NM_001101667.2:c.1537+555A>G NP_001095137.1:n.1537+555A>G
NM_001375783.1:c.1537+555A>G NP_001362712.1:n.1537+555A>G
NM_001375784.1:c.1465+555A>G NP_001362713.1:n.1465+555A>G
NM_001375785.1:c.1537+555A>G NP_001362714.1:n.1537+555A>G
NM_001375786.1:c.1537+555A>G NP_001362715.1:n.1537+555A>G
NM_001375787.1:c.1537+555A>G NP_001362716.1:n.1537+555A>G
NM_001375788.1:c.1537+555A>G NP_001362717.1:n.1537+555A>G
NM_001375789.1:c.1252+555A>G NP_001362718.1:n.1252+555A>G
NM_001375790.1:c.1537+555A>G NP_001362719.1:n.1537+555A>G