Canonical Allele Identifier: CA7266928

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74292286C>T , CM000676.2:g.74292286C>T	GRCh38
NC_000014.8:g.74758989C>T , CM000676.1:g.74758989C>T	GRCh37
NC_000014.7:g.73828742C>T	NCBI36
NG_032875.1:g.15779G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005050.4:c.1118+1G>A MANE Select	NP_005041.1:n.1118+1G>A
ENST00000356924.9:c.1118+1G>A MANE Select	ENSP00000349396.4:n.1118+1G>A
NM_001353591.1:c.992+1G>A	NP_001340520.1:n.992+1G>A
NM_001353591.2:c.992+1G>A	NP_001340520.1:n.992+1G>A
NM_001353592.1:c.992+1G>A	NP_001340521.1:n.992+1G>A
NM_001353592.2:c.992+1G>A	NP_001340521.1:n.992+1G>A
NM_001353593.1:c.857+1G>A	NP_001340522.1:n.857+1G>A
NM_001353593.2:c.857+1G>A	NP_001340522.1:n.857+1G>A
NM_001353594.1:c.806+1G>A	NP_001340523.1:n.806+1G>A
NM_001353594.2:c.806+1G>A	NP_001340523.1:n.806+1G>A
NM_001353595.1:c.704+1G>A	NP_001340524.1:n.704+1G>A
NM_001353595.2:c.704+1G>A	NP_001340524.1:n.704+1G>A
NM_001353596.1:c.704+1G>A	NP_001340525.1:n.704+1G>A
NM_001353596.2:c.704+1G>A	NP_001340525.1:n.704+1G>A
NM_001353597.1:c.653+1G>A	NP_001340526.1:n.653+1G>A
NM_001353597.2:c.653+1G>A	NP_001340526.1:n.653+1G>A
NM_001353598.1:c.641+1G>A	NP_001340527.1:n.641+1G>A
NM_001353598.2:c.641+1G>A	NP_001340527.1:n.641+1G>A
NM_001353599.1:c.641+1G>A	NP_001340528.1:n.641+1G>A
NM_001353599.2:c.641+1G>A	NP_001340528.1:n.641+1G>A
NM_001353600.1:c.641+1G>A	NP_001340529.1:n.641+1G>A
NM_001353600.2:c.641+1G>A	NP_001340529.1:n.641+1G>A
NM_001353601.1:c.641+1G>A	NP_001340530.1:n.641+1G>A
NM_001353601.2:c.641+1G>A	NP_001340530.1:n.641+1G>A
NM_001353602.1:c.329+1G>A	NP_001340531.1:n.329+1G>A
NM_001353602.2:c.329+1G>A	NP_001340531.1:n.329+1G>A
NM_001353603.1:c.329+1G>A	NP_001340532.1:n.329+1G>A
NM_001353603.2:c.329+1G>A	NP_001340532.1:n.329+1G>A
NM_001353604.1:c.329+1G>A	NP_001340533.1:n.329+1G>A
NM_001353604.2:c.329+1G>A	NP_001340533.1:n.329+1G>A
NM_001353605.1:c.329+1G>A	NP_001340534.1:n.329+1G>A
NM_001353605.2:c.329+1G>A	NP_001340534.1:n.329+1G>A
NM_001353606.1:c.329+1G>A	NP_001340535.1:n.329+1G>A
NM_001353606.2:c.329+1G>A	NP_001340535.1:n.329+1G>A
NM_001353607.1:c.329+1G>A	NP_001340536.1:n.329+1G>A
NM_001353607.2:c.329+1G>A	NP_001340536.1:n.329+1G>A
NM_001353608.1:c.329+1G>A	NP_001340537.1:n.329+1G>A
NM_001353608.2:c.329+1G>A	NP_001340537.1:n.329+1G>A
NM_001353609.1:c.329+1G>A	NP_001340538.1:n.329+1G>A
NM_001353609.2:c.329+1G>A	NP_001340538.1:n.329+1G>A
NM_001353610.1:c.329+1G>A	NP_001340539.1:n.329+1G>A
NM_001353610.2:c.329+1G>A	NP_001340539.1:n.329+1G>A
NM_005050.3:c.1118+1G>A	NP_005041.1:n.1118+1G>A
NM_020324.2:c.641+1G>A	NP_064720.1:n.641+1G>A
NM_020324.3:c.641+1G>A	NP_064720.1:n.641+1G>A
NM_020325.2:c.1118+1G>A	NP_064730.1:n.1118+1G>A
NM_020325.3:c.1118+1G>A	NP_064730.1:n.1118+1G>A
NR_003256.2:n.1142+1G>A
NR_003256.3:n.1012+1G>A
NR_148466.1:n.1170+1G>A
NR_148466.2:n.1040+1G>A
NR_148467.1:n.951+1G>A
NR_148467.2:n.821+1G>A
NR_148468.1:n.928+1G>A
NR_148468.2:n.798+1G>A
NR_148469.1:n.1175+1G>A
NR_148469.2:n.1045+1G>A
NR_148470.1:n.1137+1G>A
NR_148470.2:n.1007+1G>A
NR_148471.1:n.1175+1G>A
NR_148471.2:n.1045+1G>A
NR_148472.1:n.1224+1G>A
NR_148472.2:n.1094+1G>A
NR_148473.1:n.1151+1G>A
NR_148473.2:n.1021+1G>A
NR_148474.1:n.1270+1G>A
NR_148474.2:n.1140+1G>A
ENST00000356924.8:c.1118+1G>A	ENSP00000349396.4:n.1118+1G>A
ENST00000469672.5:c.*644+1G>A	ENSP00000434626.1:n.*644+1G>A
ENST00000474270.1:c.261+1G>A
ENST00000481935.5:c.*819+1G>A	ENSP00000436782.1:n.*819+1G>A
ENST00000496015.5:n.795+1G>A
ENST00000553486.5:c.*819+1G>A	ENSP00000450611.1:n.*819+1G>A
ENST00000553745.5:c.*828+1G>A	ENSP00000451778.1:n.*828+1G>A
ENST00000557554.5:n.371-1787G>A
XM_005267938.3:c.1118+1G>A	XP_005267995.1:n.1118+1G>A
XM_005267939.2:c.704+1G>A	XP_005267996.1:n.704+1G>A
XM_005267940.2:c.704+1G>A	XP_005267997.1:n.704+1G>A
XM_005267940.3:c.704+1G>A	XP_005267997.1:n.704+1G>A
XM_005267941.3:c.704+1G>A	XP_005267998.1:n.704+1G>A
XM_005267942.3:c.704+1G>A	XP_005267999.1:n.704+1G>A
XM_005267942.4:c.704+1G>A	XP_005267999.1:n.704+1G>A
XM_005267946.2:c.641+1G>A	XP_005268003.1:n.641+1G>A
XM_005267949.2:c.641+1G>A	XP_005268006.1:n.641+1G>A
XM_005267953.2:c.329+1G>A	XP_005268010.1:n.329+1G>A
XM_006720223.1:c.857+1G>A	XP_006720286.1:n.857+1G>A
XM_011537041.1:c.845+1G>A	XP_011535343.1:n.845+1G>A
XM_011537041.2:c.845+1G>A	XP_011535343.1:n.845+1G>A
XM_011537042.1:c.641+1G>A	XP_011535344.1:n.641+1G>A
XM_011537043.1:c.329+1G>A	XP_011535345.1:n.329+1G>A
XM_017021531.2:c.1118+1G>A	XP_016877020.1:n.1118+1G>A
XM_017021534.1:c.506+1G>A	XP_016877023.1:n.506+1G>A
XM_017021539.1:c.329+1G>A	XP_016877028.1:n.329+1G>A
XM_017021540.2:c.329+1G>A	XP_016877029.1:n.329+1G>A
XM_017021541.2:c.329+1G>A	XP_016877030.1:n.329+1G>A
XM_017021542.1:c.329+1G>A	XP_016877031.1:n.329+1G>A
XM_024449675.1:c.731+1G>A	XP_024305443.1:n.731+1G>A
XM_024449676.1:c.641+1G>A	XP_024305444.1:n.641+1G>A
XM_024449677.1:c.641+1G>A	XP_024305445.1:n.641+1G>A
XM_024449678.1:c.329+1G>A	XP_024305446.1:n.329+1G>A
XM_024449679.1:c.329+1G>A	XP_024305447.1:n.329+1G>A
XR_001750476.2:n.1193+1G>A
XR_001750478.2:n.1193+1G>A
XR_001750480.2:n.1193+1G>A
XR_001750481.2:n.1193+1G>A
XR_001750482.1:n.1128+1G>A
XR_001750484.1:n.1073+1G>A
XR_002957565.1:n.1087+1G>A
XR_245710.2:n.1203+1G>A
XR_245710.4:n.1193+1G>A
XR_943500.1:n.1203+1G>A
XR_943500.3:n.1193+1G>A