Canonical Allele Identifier: CA7266864

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74290302G>A , CM000676.2:g.74290302G>A	GRCh38
NC_000014.8:g.74757005G>A , CM000676.1:g.74757005G>A	GRCh37
NC_000014.7:g.73826758G>A	NCBI36
NG_032875.1:g.17763C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005050.4:c.1316C>T MANE Select	NP_005041.1:p.Thr439Met
ENST00000356924.9:c.1316C>T MANE Select	ENSP00000349396.4:p.Thr439Met
NM_001353591.1:c.1190C>T	NP_001340520.1:p.Thr397Met
NM_001353591.2:c.1190C>T	NP_001340520.1:p.Thr397Met
NM_001353592.1:c.1190C>T	NP_001340521.1:p.Thr397Met
NM_001353592.2:c.1190C>T	NP_001340521.1:p.Thr397Met
NM_001353593.1:c.1055C>T	NP_001340522.1:p.Thr352Met
NM_001353593.2:c.1055C>T	NP_001340522.1:p.Thr352Met
NM_001353594.1:c.1004C>T	NP_001340523.1:p.Thr335Met
NM_001353594.2:c.1004C>T	NP_001340523.1:p.Thr335Met
NM_001353595.1:c.902C>T	NP_001340524.1:p.Thr301Met
NM_001353595.2:c.902C>T	NP_001340524.1:p.Thr301Met
NM_001353596.1:c.902C>T	NP_001340525.1:p.Thr301Met
NM_001353596.2:c.902C>T	NP_001340525.1:p.Thr301Met
NM_001353597.1:c.851C>T	NP_001340526.1:p.Thr284Met
NM_001353597.2:c.851C>T	NP_001340526.1:p.Thr284Met
NM_001353598.1:c.839C>T	NP_001340527.1:p.Thr280Met
NM_001353598.2:c.839C>T	NP_001340527.1:p.Thr280Met
NM_001353599.1:c.839C>T	NP_001340528.1:p.Thr280Met
NM_001353599.2:c.839C>T	NP_001340528.1:p.Thr280Met
NM_001353600.1:c.839C>T	NP_001340529.1:p.Thr280Met
NM_001353600.2:c.839C>T	NP_001340529.1:p.Thr280Met
NM_001353601.1:c.839C>T	NP_001340530.1:p.Thr280Met
NM_001353601.2:c.839C>T	NP_001340530.1:p.Thr280Met
NM_001353602.1:c.527C>T	NP_001340531.1:p.Thr176Met
NM_001353602.2:c.527C>T	NP_001340531.1:p.Thr176Met
NM_001353603.1:c.527C>T	NP_001340532.1:p.Thr176Met
NM_001353603.2:c.527C>T	NP_001340532.1:p.Thr176Met
NM_001353604.1:c.527C>T	NP_001340533.1:p.Thr176Met
NM_001353604.2:c.527C>T	NP_001340533.1:p.Thr176Met
NM_001353605.1:c.527C>T	NP_001340534.1:p.Thr176Met
NM_001353605.2:c.527C>T	NP_001340534.1:p.Thr176Met
NM_001353606.1:c.527C>T	NP_001340535.1:p.Thr176Met
NM_001353606.2:c.527C>T	NP_001340535.1:p.Thr176Met
NM_001353607.1:c.527C>T	NP_001340536.1:p.Thr176Met
NM_001353607.2:c.527C>T	NP_001340536.1:p.Thr176Met
NM_001353608.1:c.527C>T	NP_001340537.1:p.Thr176Met
NM_001353608.2:c.527C>T	NP_001340537.1:p.Thr176Met
NM_001353609.1:c.527C>T	NP_001340538.1:p.Thr176Met
NM_001353609.2:c.527C>T	NP_001340538.1:p.Thr176Met
NM_001353610.1:c.527C>T	NP_001340539.1:p.Thr176Met
NM_001353610.2:c.527C>T	NP_001340539.1:p.Thr176Met
NM_005050.3:c.1316C>T	NP_005041.1:p.Thr439Met
NM_020324.2:c.839C>T	NP_064720.1:p.Thr280Met
NM_020324.3:c.839C>T	NP_064720.1:p.Thr280Met
NM_020325.2:c.1316C>T	NP_064730.1:p.Thr439Met
NM_020325.3:c.1316C>T	NP_064730.1:p.Thr439Met
NR_003256.2:n.1340C>T
NR_003256.3:n.1210C>T
NR_148466.1:n.1368C>T
NR_148466.2:n.1238C>T
NR_148467.1:n.1149C>T
NR_148467.2:n.1019C>T
NR_148468.1:n.1126C>T
NR_148468.2:n.996C>T
NR_148469.1:n.1373C>T
NR_148469.2:n.1243C>T
NR_148470.1:n.1335C>T
NR_148470.2:n.1205C>T
NR_148471.1:n.1373C>T
NR_148471.2:n.1243C>T
NR_148472.1:n.1422C>T
NR_148472.2:n.1292C>T
NR_148473.1:n.1349C>T
NR_148473.2:n.1219C>T
NR_148474.1:n.1468C>T
NR_148474.2:n.1338C>T
ENST00000356924.8:c.1316C>T	ENSP00000349396.4:p.Thr439Met
ENST00000466822.1:n.198C>T
ENST00000474270.1:c.459C>T
ENST00000481348.5:c.151C>T
ENST00000481935.5:c.*1017C>T	ENSP00000436782.1:n.*1017C>T
ENST00000496015.5:n.993C>T
ENST00000553486.5:c.*1017C>T	ENSP00000450611.1:n.*1017C>T
ENST00000553745.5:c.*1026C>T	ENSP00000451778.1:n.*1026C>T
ENST00000556517.1:c.151C>T
XM_005267938.3:c.1316C>T	XP_005267995.1:p.Thr439Met
XM_005267939.2:c.902C>T	XP_005267996.1:p.Thr301Met
XM_005267940.2:c.902C>T	XP_005267997.1:p.Thr301Met
XM_005267940.3:c.902C>T	XP_005267997.1:p.Thr301Met
XM_005267941.3:c.902C>T	XP_005267998.1:p.Thr301Met
XM_005267942.3:c.902C>T	XP_005267999.1:p.Thr301Met
XM_005267942.4:c.902C>T	XP_005267999.1:p.Thr301Met
XM_005267946.2:c.839C>T	XP_005268003.1:p.Thr280Met
XM_005267949.2:c.839C>T	XP_005268006.1:p.Thr280Met
XM_005267953.2:c.527C>T	XP_005268010.1:p.Thr176Met
XM_006720223.1:c.1055C>T	XP_006720286.1:p.Thr352Met
XM_011537041.1:c.1043C>T	XP_011535343.1:p.Thr348Met
XM_011537041.2:c.1043C>T	XP_011535343.1:p.Thr348Met
XM_011537042.1:c.839C>T	XP_011535344.1:p.Thr280Met
XM_011537043.1:c.527C>T	XP_011535345.1:p.Thr176Met
XM_017021531.2:c.1316C>T	XP_016877020.1:p.Thr439Met
XM_017021534.1:c.704C>T	XP_016877023.1:p.Thr235Met
XM_017021539.1:c.527C>T	XP_016877028.1:p.Thr176Met
XM_017021540.2:c.527C>T	XP_016877029.1:p.Thr176Met
XM_017021541.2:c.527C>T	XP_016877030.1:p.Thr176Met
XM_017021542.1:c.527C>T	XP_016877031.1:p.Thr176Met
XM_024449675.1:c.929C>T	XP_024305443.1:p.Thr310Met
XM_024449676.1:c.839C>T	XP_024305444.1:p.Thr280Met
XM_024449677.1:c.839C>T	XP_024305445.1:p.Thr280Met
XM_024449678.1:c.527C>T	XP_024305446.1:p.Thr176Met
XM_024449679.1:c.527C>T	XP_024305447.1:p.Thr176Met
XR_001750476.2:n.1391C>T
XR_001750478.2:n.1391C>T
XR_001750480.2:n.1391C>T
XR_001750481.2:n.1391C>T
XR_001750482.1:n.1326C>T
XR_001750484.1:n.1271C>T
XR_002957565.1:n.1285C>T
XR_245710.2:n.1401C>T
XR_245710.4:n.1391C>T
XR_943500.1:n.1401C>T
XR_943500.3:n.1391C>T