Canonical Allele Identifier: CA7266948
Gene: ABCD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74292356G>C , CM000676.2:g.74292356G>C GRCh38
NC_000014.8:g.74759059G>C , CM000676.1:g.74759059G>C GRCh37
NC_000014.7:g.73828812G>C NCBI36
NG_032875.1:g.15709C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356924.9:c.1049C>G MANE Select ENSP00000349396.4:p.Thr350Arg
ENST00000356924.8:c.1049C>G ENSP00000349396.4:p.Thr350Arg
ENST00000460308.6:c.*655C>G ENSP00000436527.2:n.*655C>G
ENST00000469672.5:c.*575C>G ENSP00000434626.1:n.*575C>G
ENST00000474270.1:c.192C>G
ENST00000481935.5:c.*750C>G ENSP00000436782.1:n.*750C>G
ENST00000496015.5:n.726C>G
ENST00000553486.5:c.*750C>G ENSP00000450611.1:n.*750C>G
ENST00000553745.5:c.*759C>G ENSP00000451778.1:n.*759C>G
ENST00000556119.5:c.*670C>G ENSP00000450491.1:n.*670C>G
ENST00000557554.5:n.371-1857C>G
NM_005050.3:c.1049C>G NP_005041.1:p.Thr350Arg
NR_003256.2:n.1073C>G
XM_005267938.3:c.1049C>G XP_005267995.1:p.Thr350Arg
XM_005267939.2:c.635C>G XP_005267996.1:p.Thr212Arg
XM_005267940.2:c.635C>G XP_005267997.1:p.Thr212Arg
XM_005267941.3:c.635C>G XP_005267998.1:p.Thr212Arg
XM_005267942.3:c.635C>G XP_005267999.1:p.Thr212Arg
XM_005267946.2:c.572C>G XP_005268003.1:p.Thr191Arg
XM_005267949.2:c.572C>G XP_005268006.1:p.Thr191Arg
XM_005267953.2:c.260C>G XP_005268010.1:p.Thr87Arg
XM_006720223.1:c.788C>G XP_006720286.1:p.Thr263Arg
XM_011537041.1:c.776C>G XP_011535343.1:p.Thr259Arg
XM_011537042.1:c.572C>G XP_011535344.1:p.Thr191Arg
XM_011537043.1:c.260C>G XP_011535345.1:p.Thr87Arg
XR_245710.2:n.1134C>G
XR_943500.1:n.1134C>G
NM_001353591.1:c.923C>G NP_001340520.1:p.Thr308Arg
NM_001353592.1:c.923C>G NP_001340521.1:p.Thr308Arg
NM_001353593.1:c.788C>G NP_001340522.1:p.Thr263Arg
NM_001353594.1:c.737C>G NP_001340523.1:p.Thr246Arg
NM_001353595.1:c.635C>G NP_001340524.1:p.Thr212Arg
NM_001353596.1:c.635C>G NP_001340525.1:p.Thr212Arg
NM_001353597.1:c.584C>G NP_001340526.1:p.Thr195Arg
NM_001353598.1:c.572C>G NP_001340527.1:p.Thr191Arg
NM_001353599.1:c.572C>G NP_001340528.1:p.Thr191Arg
NM_001353600.1:c.572C>G NP_001340529.1:p.Thr191Arg
NM_001353601.1:c.572C>G NP_001340530.1:p.Thr191Arg
NM_001353602.1:c.260C>G NP_001340531.1:p.Thr87Arg
NM_001353603.1:c.260C>G NP_001340532.1:p.Thr87Arg
NM_001353604.1:c.260C>G NP_001340533.1:p.Thr87Arg
NM_001353605.1:c.260C>G NP_001340534.1:p.Thr87Arg
NM_001353606.1:c.260C>G NP_001340535.1:p.Thr87Arg
NM_001353607.1:c.260C>G NP_001340536.1:p.Thr87Arg
NM_001353608.1:c.260C>G NP_001340537.1:p.Thr87Arg
NM_001353609.1:c.260C>G NP_001340538.1:p.Thr87Arg
NM_001353610.1:c.260C>G NP_001340539.1:p.Thr87Arg
NM_020324.2:c.572C>G NP_064720.1:p.Thr191Arg
NM_020325.2:c.1049C>G NP_064730.1:p.Thr350Arg
NR_148466.1:n.1101C>G
NR_148467.1:n.882C>G
NR_148468.1:n.859C>G
NR_148469.1:n.1106C>G
NR_148470.1:n.1068C>G
NR_148471.1:n.1106C>G
NR_148472.1:n.1155C>G
NR_148473.1:n.1082C>G
NR_148474.1:n.1201C>G
XM_005267940.3:c.635C>G XP_005267997.1:p.Thr212Arg
XM_005267942.4:c.635C>G XP_005267999.1:p.Thr212Arg
XM_011537041.2:c.776C>G XP_011535343.1:p.Thr259Arg
XM_017021531.2:c.1049C>G XP_016877020.1:p.Thr350Arg
XM_017021534.1:c.437C>G XP_016877023.1:p.Thr146Arg
XM_017021539.1:c.260C>G XP_016877028.1:p.Thr87Arg
XM_017021540.2:c.260C>G XP_016877029.1:p.Thr87Arg
XM_017021541.2:c.260C>G XP_016877030.1:p.Thr87Arg
XM_017021542.1:c.260C>G XP_016877031.1:p.Thr87Arg
XM_024449675.1:c.662C>G XP_024305443.1:p.Thr221Arg
XM_024449676.1:c.572C>G XP_024305444.1:p.Thr191Arg
XM_024449677.1:c.572C>G XP_024305445.1:p.Thr191Arg
XM_024449678.1:c.260C>G XP_024305446.1:p.Thr87Arg
XM_024449679.1:c.260C>G XP_024305447.1:p.Thr87Arg
XR_001750476.2:n.1124C>G
XR_001750478.2:n.1124C>G
XR_001750480.2:n.1124C>G
XR_001750481.2:n.1124C>G
XR_001750482.1:n.1059C>G
XR_001750484.1:n.1004C>G
XR_002957565.1:n.1018C>G
XR_245710.4:n.1124C>G
XR_943500.3:n.1124C>G
NM_005050.4:c.1049C>G MANE Select NP_005041.1:p.Thr350Arg
NM_001353591.2:c.923C>G NP_001340520.1:p.Thr308Arg
NM_001353592.2:c.923C>G NP_001340521.1:p.Thr308Arg
NM_001353593.2:c.788C>G NP_001340522.1:p.Thr263Arg
NM_001353594.2:c.737C>G NP_001340523.1:p.Thr246Arg
NM_001353595.2:c.635C>G NP_001340524.1:p.Thr212Arg
NM_001353596.2:c.635C>G NP_001340525.1:p.Thr212Arg
NM_001353597.2:c.584C>G NP_001340526.1:p.Thr195Arg
NM_001353598.2:c.572C>G NP_001340527.1:p.Thr191Arg
NM_001353599.2:c.572C>G NP_001340528.1:p.Thr191Arg
NM_001353600.2:c.572C>G NP_001340529.1:p.Thr191Arg
NM_001353601.2:c.572C>G NP_001340530.1:p.Thr191Arg
NM_001353602.2:c.260C>G NP_001340531.1:p.Thr87Arg
NM_001353603.2:c.260C>G NP_001340532.1:p.Thr87Arg
NM_001353604.2:c.260C>G NP_001340533.1:p.Thr87Arg
NM_001353605.2:c.260C>G NP_001340534.1:p.Thr87Arg
NM_001353606.2:c.260C>G NP_001340535.1:p.Thr87Arg
NM_001353607.2:c.260C>G NP_001340536.1:p.Thr87Arg
NM_001353608.2:c.260C>G NP_001340537.1:p.Thr87Arg
NM_001353609.2:c.260C>G NP_001340538.1:p.Thr87Arg
NM_001353610.2:c.260C>G NP_001340539.1:p.Thr87Arg
NM_020324.3:c.572C>G NP_064720.1:p.Thr191Arg
NM_020325.3:c.1049C>G NP_064730.1:p.Thr350Arg
NR_003256.3:n.943C>G
NR_148466.2:n.971C>G
NR_148467.2:n.752C>G
NR_148468.2:n.729C>G
NR_148469.2:n.976C>G
NR_148470.2:n.938C>G
NR_148471.2:n.976C>G
NR_148472.2:n.1025C>G
NR_148473.2:n.952C>G
NR_148474.2:n.1071C>G