Canonical Allele Identifier: CA7266720
Gene: ABCD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74288233G>A , CM000676.2:g.74288233G>A GRCh38
NC_000014.8:g.74754936G>A , CM000676.1:g.74754936G>A GRCh37
NC_000014.7:g.73824689G>A NCBI36
NG_032875.1:g.19832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356924.9:c.1533C>T MANE Select ENSP00000349396.4:p.Gly511=
ENST00000356924.8:c.1533C>T ENSP00000349396.4:p.Gly511=
ENST00000465085.2:n.409C>T
ENST00000474270.1:c.584C>T
ENST00000481348.5:c.424C>T
ENST00000481935.5:c.*1234C>T ENSP00000436782.1:n.*1234C>T
ENST00000484380.2:n.1721C>T
ENST00000553486.5:c.*1234C>T ENSP00000450611.1:n.*1234C>T
ENST00000553745.5:c.*1243C>T ENSP00000451778.1:n.*1243C>T
ENST00000555904.1:c.80C>T
ENST00000556517.1:c.424C>T
NM_005050.3:c.1533C>T NP_005041.1:p.Gly511=
NR_003256.2:n.1557C>T
XM_005267939.2:c.1119C>T XP_005267996.1:p.Gly373=
XM_005267940.2:c.1119C>T XP_005267997.1:p.Gly373=
XM_005267941.3:c.1119C>T XP_005267998.1:p.Gly373=
XM_005267942.3:c.1119C>T XP_005267999.1:p.Gly373=
XM_005267946.2:c.1056C>T XP_005268003.1:p.Gly352=
XM_005267949.2:c.1056C>T XP_005268006.1:p.Gly352=
XM_005267953.2:c.744C>T XP_005268010.1:p.Gly248=
XM_006720223.1:c.1272C>T XP_006720286.1:p.Gly424=
XM_011537041.1:c.1260C>T XP_011535343.1:p.Gly420=
XM_011537042.1:c.1056C>T XP_011535344.1:p.Gly352=
XM_011537043.1:c.744C>T XP_011535345.1:p.Gly248=
XR_245710.2:n.1526C>T
XR_943500.1:n.2138C>T
NM_001353591.1:c.1407C>T NP_001340520.1:p.Gly469=
NM_001353592.1:c.1407C>T NP_001340521.1:p.Gly469=
NM_001353593.1:c.1272C>T NP_001340522.1:p.Gly424=
NM_001353594.1:c.1221C>T NP_001340523.1:p.Gly407=
NM_001353595.1:c.1119C>T NP_001340524.1:p.Gly373=
NM_001353596.1:c.1119C>T NP_001340525.1:p.Gly373=
NM_001353597.1:c.1068C>T NP_001340526.1:p.Gly356=
NM_001353598.1:c.1056C>T NP_001340527.1:p.Gly352=
NM_001353599.1:c.1056C>T NP_001340528.1:p.Gly352=
NM_001353600.1:c.1056C>T NP_001340529.1:p.Gly352=
NM_001353601.1:c.1056C>T NP_001340530.1:p.Gly352=
NM_001353602.1:c.744C>T NP_001340531.1:p.Gly248=
NM_001353603.1:c.744C>T NP_001340532.1:p.Gly248=
NM_001353604.1:c.744C>T NP_001340533.1:p.Gly248=
NM_001353605.1:c.744C>T NP_001340534.1:p.Gly248=
NM_001353606.1:c.744C>T NP_001340535.1:p.Gly248=
NM_001353607.1:c.744C>T NP_001340536.1:p.Gly248=
NM_001353608.1:c.744C>T NP_001340537.1:p.Gly248=
NM_001353609.1:c.744C>T NP_001340538.1:p.Gly248=
NM_001353610.1:c.800C>T NP_001340539.1:p.Ala267Val
NM_020324.2:c.1056C>T NP_064720.1:p.Gly352=
NM_020325.2:c.1533C>T NP_064730.1:p.Gly511=
NR_148466.1:n.1493C>T
NR_148467.1:n.1274C>T
NR_148468.1:n.1251C>T
NR_148469.1:n.1498C>T
NR_148470.1:n.1460C>T
NR_148471.1:n.1498C>T
NR_148472.1:n.1547C>T
NR_148473.1:n.1474C>T
NR_148474.1:n.1593C>T
XM_005267940.3:c.1119C>T XP_005267997.1:p.Gly373=
XM_005267942.4:c.1119C>T XP_005267999.1:p.Gly373=
XM_011537041.2:c.1260C>T XP_011535343.1:p.Gly420=
XM_017021531.2:c.1589C>T XP_016877020.1:p.Ala530Val
XM_017021534.1:c.921C>T XP_016877023.1:p.Gly307=
XM_017021539.1:c.744C>T XP_016877028.1:p.Gly248=
XM_017021540.2:c.744C>T XP_016877029.1:p.Gly248=
XM_017021541.2:c.744C>T XP_016877030.1:p.Gly248=
XM_017021542.1:c.744C>T XP_016877031.1:p.Gly248=
XM_024449675.1:c.1146C>T XP_024305443.1:p.Gly382=
XM_024449676.1:c.1056C>T XP_024305444.1:p.Gly352=
XM_024449677.1:c.1056C>T XP_024305445.1:p.Gly352=
XM_024449678.1:c.744C>T XP_024305446.1:p.Gly248=
XM_024449679.1:c.744C>T XP_024305447.1:p.Gly248=
XR_001750476.2:n.1664C>T
XR_001750478.2:n.2036C>T
XR_001750480.2:n.1572C>T
XR_001750482.1:n.1599C>T
XR_001750484.1:n.1916C>T
XR_002957565.1:n.1558C>T
XR_245710.4:n.1516C>T
XR_943500.3:n.2128C>T
NM_005050.4:c.1533C>T MANE Select NP_005041.1:p.Gly511=
NM_001353591.2:c.1407C>T NP_001340520.1:p.Gly469=
NM_001353592.2:c.1407C>T NP_001340521.1:p.Gly469=
NM_001353593.2:c.1272C>T NP_001340522.1:p.Gly424=
NM_001353594.2:c.1221C>T NP_001340523.1:p.Gly407=
NM_001353595.2:c.1119C>T NP_001340524.1:p.Gly373=
NM_001353596.2:c.1119C>T NP_001340525.1:p.Gly373=
NM_001353597.2:c.1068C>T NP_001340526.1:p.Gly356=
NM_001353598.2:c.1056C>T NP_001340527.1:p.Gly352=
NM_001353599.2:c.1056C>T NP_001340528.1:p.Gly352=
NM_001353600.2:c.1056C>T NP_001340529.1:p.Gly352=
NM_001353601.2:c.1056C>T NP_001340530.1:p.Gly352=
NM_001353602.2:c.744C>T NP_001340531.1:p.Gly248=
NM_001353603.2:c.744C>T NP_001340532.1:p.Gly248=
NM_001353604.2:c.744C>T NP_001340533.1:p.Gly248=
NM_001353605.2:c.744C>T NP_001340534.1:p.Gly248=
NM_001353606.2:c.744C>T NP_001340535.1:p.Gly248=
NM_001353607.2:c.744C>T NP_001340536.1:p.Gly248=
NM_001353608.2:c.744C>T NP_001340537.1:p.Gly248=
NM_001353609.2:c.744C>T NP_001340538.1:p.Gly248=
NM_001353610.2:c.800C>T NP_001340539.1:p.Ala267Val
NM_020324.3:c.1056C>T NP_064720.1:p.Gly352=
NM_020325.3:c.1533C>T NP_064730.1:p.Gly511=
NR_003256.3:n.1427C>T
NR_148466.2:n.1363C>T
NR_148467.2:n.1144C>T
NR_148468.2:n.1121C>T
NR_148469.2:n.1368C>T
NR_148470.2:n.1330C>T
NR_148471.2:n.1368C>T
NR_148472.2:n.1417C>T
NR_148473.2:n.1344C>T
NR_148474.2:n.1463C>T