Canonical Allele Identifier: CA92112220

Gene: ACOX3

Linked Data

• dbSNP Id: rs113463219
• gnomAD v2: 4-8390277-G-C
• gnomAD v3: 4-8388550-G-C
• gnomAD v4: 4-8388550-G-C
• MyVariant Identifiers: chr4:g.8390277G>C (hg19) ; chr4:g.8388550G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.8388550G>C , CM000666.2:g.8388550G>C	GRCh38
NC_000004.11:g.8390277G>C , CM000666.1:g.8390277G>C	GRCh37
NC_000004.10:g.8441177G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356406.10:c.1537+623C>G MANE Select	ENSP00000348775.4:n.1537+623C>G
ENST00000356406.9:c.1537+623C>G	ENSP00000348775.4:n.1537+623C>G
ENST00000413009.6:c.1537+623C>G	ENSP00000413994.2:n.1537+623C>G
ENST00000503233.5:c.1537+623C>G	ENSP00000421625.1:n.1537+623C>G
ENST00000508302.1:n.522+623C>G
ENST00000510365.5:n.1249+623C>G
NM_001101667.1:c.1537+623C>G	NP_001095137.1:n.1537+623C>G
NM_003501.2:c.1537+623C>G	NP_003492.2:n.1537+623C>G
XM_005248011.3:c.1537+623C>G	XP_005248068.1:n.1537+623C>G
XM_005248012.3:c.1537+623C>G	XP_005248069.1:n.1537+623C>G
XM_005248013.3:c.1537+623C>G	XP_005248070.1:n.1537+623C>G
XM_011513565.1:c.1537+623C>G	XP_011511867.1:n.1537+623C>G
XM_011513566.1:c.1537+623C>G	XP_011511868.1:n.1537+623C>G
XM_011513567.1:c.1538-178C>G	XP_011511869.1:n.1538-178C>G
XR_925000.1:n.1682+623C>G
XM_005248011.4:c.1537+623C>G	XP_005248068.1:n.1537+623C>G
XM_011513565.2:c.1537+623C>G	XP_011511867.1:n.1537+623C>G
XM_024454237.1:c.1538-178C>G	XP_024310005.1:n.1538-178C>G
NM_003501.3:c.1537+623C>G MANE Select	NP_003492.2:n.1537+623C>G
NM_001101667.2:c.1537+623C>G	NP_001095137.1:n.1537+623C>G
NM_001375783.1:c.1537+623C>G	NP_001362712.1:n.1537+623C>G
NM_001375784.1:c.1465+623C>G	NP_001362713.1:n.1465+623C>G
NM_001375785.1:c.1537+623C>G	NP_001362714.1:n.1537+623C>G
NM_001375786.1:c.1537+623C>G	NP_001362715.1:n.1537+623C>G
NM_001375787.1:c.1537+623C>G	NP_001362716.1:n.1537+623C>G
NM_001375788.1:c.1537+623C>G	NP_001362717.1:n.1537+623C>G
NM_001375789.1:c.1252+623C>G	NP_001362718.1:n.1252+623C>G
NM_001375790.1:c.1537+623C>G	NP_001362719.1:n.1537+623C>G