Canonical Allele Identifier: CA8776969

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75955857C>T , CM000679.2:g.75955857C>T	GRCh38
NC_000017.10:g.73951938C>T , CM000679.1:g.73951938C>T	GRCh37
NC_000017.9:g.71463533C>T	NCBI36
NG_008190.1:g.28507G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.629G>A MANE Select	NP_004026.2:p.Arg210His
ENST00000293217.10:c.629G>A MANE Select	ENSP00000293217.4:p.Arg210His
NM_001185039.1:c.515G>A	NP_001171968.1:p.Arg172His
NM_001185039.2:c.515G>A	NP_001171968.1:p.Arg172His
NM_004035.6:c.629G>A	NP_004026.2:p.Arg210His
NM_007292.5:c.629G>A	NP_009223.2:p.Arg210His
NM_007292.6:c.629G>A	NP_009223.2:p.Arg210His
ENST00000293217.9:c.629G>A	ENSP00000293217.4:p.Arg210His
ENST00000301608.8:c.629G>A	ENSP00000301608.4:p.Arg210His
ENST00000301608.9:c.629G>A	ENSP00000301608.4:p.Arg210His
ENST00000572047.5:c.803G>A	ENSP00000459936.1:n.803G>A
ENST00000573078.5:c.*118G>A	ENSP00000458325.1:n.*118G>A
XM_011524868.1:c.425G>A	XP_011523170.1:p.Arg142His
XM_011524868.3:c.425G>A	XP_011523170.1:p.Arg142His
XM_011524869.1:c.221G>A	XP_011523171.1:p.Arg74His
XM_011524869.3:c.221G>A	XP_011523171.1:p.Arg74His