Canonical Allele Identifier: CA5450861

Gene: ACBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27218190C>T , CM000672.2:g.27218190C>T	GRCh38
NC_000010.10:g.27507119C>T , CM000672.1:g.27507119C>T	GRCh37
NC_000010.9:g.27547125C>T	NCBI36
NG_032960.2:g.28950G>A
NG_032960.3:g.35485G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145698.5:c.626-7G>A MANE Select	NP_663736.2:n.626-7G>A
ENST00000396271.8:c.626-7G>A MANE Select	ENSP00000379568.3:n.626-7G>A
NM_001042473.3:c.521-7G>A	NP_001035938.1:n.521-7G>A
NM_001042473.4:c.521-7G>A	NP_001035938.1:n.521-7G>A
NM_001271512.3:c.620-7G>A	NP_001258441.1:n.620-7G>A
NM_001301251.1:c.299-7G>A	NP_001288180.1:n.299-7G>A
NM_001301251.2:c.299-7G>A	NP_001288180.1:n.299-7G>A
NM_001301252.1:c.299-7G>A	NP_001288181.1:n.299-7G>A
NM_001301252.2:c.299-7G>A	NP_001288181.1:n.299-7G>A
NM_001301253.1:c.299-7G>A	NP_001288182.1:n.299-7G>A
NM_001301253.2:c.299-7G>A	NP_001288182.1:n.299-7G>A
NM_001301254.1:c.298+1533G>A	NP_001288183.1:n.298+1533G>A
NM_001301254.2:c.298+1533G>A	NP_001288183.1:n.298+1533G>A
NM_001352568.1:c.680-7G>A	NP_001339497.1:n.680-7G>A
NM_001352569.1:c.659-7G>A	NP_001339498.1:n.659-7G>A
NM_001352570.1:c.626-7G>A	NP_001339499.1:n.626-7G>A
NM_001352571.1:c.653-7G>A	NP_001339500.1:n.653-7G>A
NM_001352572.1:c.647-7G>A	NP_001339501.1:n.647-7G>A
NM_001352573.1:c.605-7G>A	NP_001339502.1:n.605-7G>A
NM_001352574.1:c.554-7G>A	NP_001339503.1:n.554-7G>A
NM_001352574.2:c.554-7G>A	NP_001339503.1:n.554-7G>A
NM_001352575.1:c.554-7G>A	NP_001339504.1:n.554-7G>A
NM_001352575.2:c.554-7G>A	NP_001339504.1:n.554-7G>A
NM_001352576.1:c.554-7G>A	NP_001339505.1:n.554-7G>A
NM_001352576.2:c.554-7G>A	NP_001339505.1:n.554-7G>A
NM_001352577.1:c.521-7G>A	NP_001339506.1:n.521-7G>A
NM_001352577.2:c.521-7G>A	NP_001339506.1:n.521-7G>A
NM_001352578.1:c.521-7G>A	NP_001339507.1:n.521-7G>A
NM_001352578.2:c.521-7G>A	NP_001339507.1:n.521-7G>A
NM_001352579.1:c.521-7G>A	NP_001339508.1:n.521-7G>A
NM_001352579.2:c.521-7G>A	NP_001339508.1:n.521-7G>A
NM_001352580.1:c.467-7G>A	NP_001339509.1:n.467-7G>A
NM_001352580.2:c.467-7G>A	NP_001339509.1:n.467-7G>A
NM_001352581.1:c.658+1533G>A	NP_001339510.1:n.658+1533G>A
NM_001352582.1:c.520+1533G>A	NP_001339511.1:n.520+1533G>A
NM_001352582.2:c.520+1533G>A	NP_001339511.1:n.520+1533G>A
NM_001352583.1:c.299-7G>A	NP_001339512.1:n.299-7G>A
NM_001352584.1:c.299-7G>A	NP_001339513.1:n.299-7G>A
NM_001352585.1:c.332-7G>A	NP_001339514.1:n.332-7G>A
NM_001352586.1:c.652+1533G>A	NP_001339515.1:n.652+1533G>A
NM_001352587.1:c.619+1533G>A	NP_001339516.1:n.619+1533G>A
NM_001352588.1:c.625+1533G>A	NP_001339517.1:n.625+1533G>A
NM_145698.4:c.626-7G>A	NP_663736.2:n.626-7G>A
ENST00000375888.5:c.653-7G>A	ENSP00000365049.1:n.653-7G>A
ENST00000375897.7:c.620-7G>A	ENSP00000365062.4:n.620-7G>A
ENST00000375901.5:c.299-7G>A	ENSP00000365066.1:n.299-7G>A
ENST00000375905.8:c.521-7G>A	ENSP00000365070.4:n.521-7G>A
ENST00000396271.7:c.626-7G>A	ENSP00000379568.3:n.626-7G>A
ENST00000412279.1:c.554-7G>A	ENSP00000393398.1:n.554-7G>A
ENST00000426079.5:c.554-7G>A	ENSP00000401591.2:n.554-7G>A
ENST00000476758.1:c.*420-7G>A	ENSP00000483256.1:n.*420-7G>A
ENST00000676511.1:c.554-7G>A	ENSP00000504333.1:n.554-7G>A
ENST00000676599.1:c.*433-7G>A	ENSP00000503053.1:n.*433-7G>A
ENST00000676648.1:c.653-7G>A	ENSP00000503864.1:n.653-7G>A
ENST00000676731.1:c.521-7G>A	ENSP00000503158.1:n.521-7G>A
ENST00000676732.1:c.553+1533G>A	ENSP00000504029.1:n.553+1533G>A
ENST00000676997.1:c.626-7G>A	ENSP00000503467.1:n.626-7G>A
ENST00000677141.1:c.605-7G>A	ENSP00000503831.1:n.605-7G>A
ENST00000677200.1:c.521-7G>A	ENSP00000503715.1:n.521-7G>A
ENST00000677248.1:c.553+1533G>A	ENSP00000504367.1:n.553+1533G>A
ENST00000677311.1:c.620-7G>A	ENSP00000504499.1:n.620-7G>A
ENST00000677440.1:c.332-7G>A	ENSP00000504580.1:n.332-7G>A
ENST00000677441.1:c.521-7G>A	ENSP00000503415.1:n.521-7G>A
ENST00000677509.1:c.554-7G>A	ENSP00000503264.1:n.554-7G>A
ENST00000677667.1:c.520+1533G>A	ENSP00000503208.1:n.520+1533G>A
ENST00000677901.1:c.253+1533G>A	ENSP00000504374.1:n.253+1533G>A
ENST00000677960.1:c.520+1533G>A	ENSP00000504726.1:n.520+1533G>A
ENST00000678392.1:c.521-7G>A	ENSP00000504666.1:n.521-7G>A
ENST00000678446.1:c.520+1533G>A	ENSP00000503800.1:n.520+1533G>A
ENST00000679220.1:c.467-7G>A	ENSP00000502986.1:n.467-7G>A
ENST00000679293.1:c.521-7G>A	ENSP00000503631.1:n.521-7G>A
XM_006717528.2:c.554-7G>A	XP_006717591.2:n.554-7G>A
XM_006717528.4:c.851-7G>A	XP_006717591.3:n.851-7G>A
XM_006717530.2:c.680-7G>A	XP_006717593.1:n.680-7G>A
XM_006717531.1:c.659-7G>A	XP_006717594.1:n.659-7G>A
XM_006717533.2:c.553+1533G>A	XP_006717596.2:n.553+1533G>A
XM_006717535.1:c.554-7G>A	XP_006717598.1:n.554-7G>A
XM_011519759.1:c.520+1533G>A	XP_011518061.1:n.520+1533G>A
XM_011519760.1:c.332-7G>A	XP_011518062.1:n.332-7G>A
XM_017016884.2:c.851-7G>A	XP_016872373.1:n.851-7G>A
XM_017016885.2:c.818-7G>A	XP_016872374.1:n.818-7G>A
XM_017016886.2:c.818-7G>A	XP_016872375.1:n.818-7G>A
XM_017016887.2:c.680-7G>A	XP_016872376.1:n.680-7G>A
XM_017016888.2:c.659-7G>A	XP_016872377.1:n.659-7G>A
XM_017016889.2:c.647-7G>A	XP_016872378.1:n.647-7G>A
XM_017016890.2:c.850+1533G>A	XP_016872379.1:n.850+1533G>A
XM_017016893.2:c.817+1533G>A	XP_016872382.1:n.817+1533G>A
XM_017016894.2:c.817+1533G>A	XP_016872383.1:n.817+1533G>A
XM_017016895.2:c.554-7G>A	XP_016872384.1:n.554-7G>A
XM_017016896.1:c.521-7G>A	XP_016872385.1:n.521-7G>A
XM_017016898.2:c.625+1533G>A	XP_016872387.1:n.625+1533G>A
XM_017016900.1:c.332-7G>A	XP_016872389.1:n.332-7G>A
XM_017016901.1:c.332-7G>A	XP_016872390.1:n.332-7G>A
XM_017016902.1:c.332-7G>A	XP_016872391.1:n.332-7G>A
XM_017016904.1:c.299-7G>A	XP_016872393.1:n.299-7G>A
XM_017016905.1:c.299-7G>A	XP_016872394.1:n.299-7G>A
XM_024448248.1:c.658+1533G>A	XP_024304016.1:n.658+1533G>A
XM_024448249.1:c.646+1533G>A	XP_024304017.1:n.646+1533G>A