Canonical Allele Identifier: CA390377152

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74295966C>T , CM000676.2:g.74295966C>T	GRCh38
NC_000014.8:g.74762669C>T , CM000676.1:g.74762669C>T	GRCh37
NC_000014.7:g.73832422C>T	NCBI36
NG_032875.1:g.12099G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005050.4:c.556G>A MANE Select	NP_005041.1:p.Gly186Arg
ENST00000356924.9:c.556G>A MANE Select	ENSP00000349396.4:p.Gly186Arg
NM_001353591.1:c.542+367G>A	NP_001340520.1:n.542+367G>A
NM_001353591.2:c.542+367G>A	NP_001340520.1:n.542+367G>A
NM_001353592.1:c.542+367G>A	NP_001340521.1:n.542+367G>A
NM_001353592.2:c.542+367G>A	NP_001340521.1:n.542+367G>A
NM_001353593.1:c.295G>A	NP_001340522.1:p.Gly99Arg
NM_001353593.2:c.295G>A	NP_001340522.1:p.Gly99Arg
NM_001353594.1:c.295G>A	NP_001340523.1:p.Gly99Arg
NM_001353594.2:c.295G>A	NP_001340523.1:p.Gly99Arg
NM_001353595.1:c.142G>A	NP_001340524.1:p.Gly48Arg
NM_001353595.2:c.142G>A	NP_001340524.1:p.Gly48Arg
NM_001353596.1:c.142G>A	NP_001340525.1:p.Gly48Arg
NM_001353596.2:c.142G>A	NP_001340525.1:p.Gly48Arg
NM_001353597.1:c.142G>A	NP_001340526.1:p.Gly48Arg
NM_001353597.2:c.142G>A	NP_001340526.1:p.Gly48Arg
NM_001353598.1:c.79G>A	NP_001340527.1:p.Gly27Arg
NM_001353598.2:c.79G>A	NP_001340527.1:p.Gly27Arg
NM_001353599.1:c.79G>A	NP_001340528.1:p.Gly27Arg
NM_001353599.2:c.79G>A	NP_001340528.1:p.Gly27Arg
NM_001353600.1:c.79G>A	NP_001340529.1:p.Gly27Arg
NM_001353600.2:c.79G>A	NP_001340529.1:p.Gly27Arg
NM_001353601.1:c.79G>A	NP_001340530.1:p.Gly27Arg
NM_001353601.2:c.79G>A	NP_001340530.1:p.Gly27Arg
NM_001353602.1:c.-139G>A	NP_001340531.1:n.-139G>A
NM_001353602.2:c.-139G>A	NP_001340531.1:n.-139G>A
NM_001353603.1:c.-139G>A	NP_001340532.1:n.-139G>A
NM_001353603.2:c.-139G>A	NP_001340532.1:n.-139G>A
NM_001353604.1:c.-139G>A	NP_001340533.1:n.-139G>A
NM_001353604.2:c.-139G>A	NP_001340533.1:n.-139G>A
NM_001353605.1:c.-139G>A	NP_001340534.1:n.-139G>A
NM_001353605.2:c.-139G>A	NP_001340534.1:n.-139G>A
NM_001353606.1:c.-139G>A	NP_001340535.1:n.-139G>A
NM_001353606.2:c.-139G>A	NP_001340535.1:n.-139G>A
NM_001353607.1:c.-139G>A	NP_001340536.1:n.-139G>A
NM_001353607.2:c.-139G>A	NP_001340536.1:n.-139G>A
NM_001353608.1:c.-139G>A	NP_001340537.1:n.-139G>A
NM_001353608.2:c.-139G>A	NP_001340537.1:n.-139G>A
NM_001353609.1:c.-139G>A	NP_001340538.1:n.-139G>A
NM_001353609.2:c.-139G>A	NP_001340538.1:n.-139G>A
NM_001353610.1:c.-139G>A	NP_001340539.1:n.-139G>A
NM_001353610.2:c.-139G>A	NP_001340539.1:n.-139G>A
NM_005050.3:c.556G>A	NP_005041.1:p.Gly186Arg
NM_020324.2:c.79G>A	NP_064720.1:p.Gly27Arg
NM_020324.3:c.79G>A	NP_064720.1:p.Gly27Arg
NM_020325.2:c.556G>A	NP_064730.1:p.Gly186Arg
NM_020325.3:c.556G>A	NP_064730.1:p.Gly186Arg
NR_003256.2:n.580G>A
NR_003256.3:n.450G>A
NR_148466.1:n.703G>A
NR_148466.2:n.573G>A
NR_148467.1:n.440G>A
NR_148467.2:n.310G>A
NR_148468.1:n.461G>A
NR_148468.2:n.331G>A
NR_148469.1:n.708G>A
NR_148469.2:n.578G>A
NR_148470.1:n.580G>A
NR_148470.2:n.450G>A
NR_148471.1:n.708G>A
NR_148471.2:n.578G>A
NR_148472.1:n.662G>A
NR_148472.2:n.532G>A
NR_148473.1:n.589G>A
NR_148473.2:n.459G>A
NR_148474.1:n.708G>A
NR_148474.2:n.578G>A
ENST00000356924.8:c.556G>A	ENSP00000349396.4:p.Gly186Arg
ENST00000460308.6:c.*257G>A	ENSP00000436527.2:n.*257G>A
ENST00000469672.5:c.*177G>A	ENSP00000434626.1:n.*177G>A
ENST00000470637.1:c.*548G>A	ENSP00000432630.1:n.*548G>A
ENST00000475240.5:n.310G>A
ENST00000481935.5:c.*257G>A	ENSP00000436782.1:n.*257G>A
ENST00000489678.1:n.1751G>A
ENST00000553486.5:c.*257G>A	ENSP00000450611.1:n.*257G>A
ENST00000553745.5:c.*317G>A	ENSP00000451778.1:n.*317G>A
ENST00000554453.5:c.288G>A	ENSP00000451457.1:p.Ser96=
ENST00000555617.5:c.*163+367G>A	ENSP00000451521.1:n.*163+367G>A
ENST00000556119.5:c.*177G>A	ENSP00000450491.1:n.*177G>A
ENST00000556971.1:c.435G>A
ENST00000557554.5:n.370+3582G>A
ENST00000557588.5:c.542+367G>A	ENSP00000451993.1:n.542+367G>A
XM_005267938.3:c.556G>A	XP_005267995.1:p.Gly186Arg
XM_005267939.2:c.142G>A	XP_005267996.1:p.Gly48Arg
XM_005267940.2:c.142G>A	XP_005267997.1:p.Gly48Arg
XM_005267940.3:c.142G>A	XP_005267997.1:p.Gly48Arg
XM_005267941.3:c.142G>A	XP_005267998.1:p.Gly48Arg
XM_005267942.3:c.142G>A	XP_005267999.1:p.Gly48Arg
XM_005267942.4:c.142G>A	XP_005267999.1:p.Gly48Arg
XM_005267946.2:c.79G>A	XP_005268003.1:p.Gly27Arg
XM_005267949.2:c.79G>A	XP_005268006.1:p.Gly27Arg
XM_005267953.2:c.-139G>A	XP_005268010.1:n.-139G>A
XM_006720223.1:c.295G>A	XP_006720286.1:p.Gly99Arg
XM_011537041.1:c.283G>A	XP_011535343.1:p.Gly95Arg
XM_011537041.2:c.283G>A	XP_011535343.1:p.Gly95Arg
XM_011537042.1:c.79G>A	XP_011535344.1:p.Gly27Arg
XM_011537043.1:c.-139G>A	XP_011535345.1:n.-139G>A
XM_017021531.2:c.556G>A	XP_016877020.1:p.Gly186Arg
XM_017021534.1:c.-57G>A	XP_016877023.1:n.-57G>A
XM_017021539.1:c.-139G>A	XP_016877028.1:n.-139G>A
XM_017021540.2:c.-139G>A	XP_016877029.1:n.-139G>A
XM_017021541.2:c.-27+367G>A	XP_016877030.1:n.-27+367G>A
XM_017021542.1:c.-27+367G>A	XP_016877031.1:n.-27+367G>A
XM_024449675.1:c.281+367G>A	XP_024305443.1:n.281+367G>A
XM_024449676.1:c.79G>A	XP_024305444.1:p.Gly27Arg
XM_024449677.1:c.79G>A	XP_024305445.1:p.Gly27Arg
XM_024449678.1:c.-139G>A	XP_024305446.1:n.-139G>A
XM_024449679.1:c.-27+367G>A	XP_024305447.1:n.-27+367G>A
XR_001750476.2:n.631G>A
XR_001750478.2:n.631G>A
XR_001750480.2:n.631G>A
XR_001750481.2:n.631G>A
XR_001750482.1:n.566G>A
XR_001750484.1:n.511G>A
XR_002957565.1:n.620G>A
XR_245710.2:n.641G>A
XR_245710.4:n.631G>A
XR_943500.1:n.641G>A
XR_943500.3:n.631G>A