Canonical Allele Identifier: CA7266682

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74287858G>A , CM000676.2:g.74287858G>A	GRCh38
NC_000014.8:g.74754561G>A , CM000676.1:g.74754561G>A	GRCh37
NC_000014.7:g.73824314G>A	NCBI36
NG_032875.1:g.20207C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005050.4:c.1588C>T MANE Select	NP_005041.1:p.Gln530Ter
ENST00000356924.9:c.1588C>T MANE Select	ENSP00000349396.4:p.Gln530Ter
NM_001353591.1:c.1462C>T	NP_001340520.1:p.Gln488Ter
NM_001353591.2:c.1462C>T	NP_001340520.1:p.Gln488Ter
NM_001353592.1:c.1462C>T	NP_001340521.1:p.Gln488Ter
NM_001353592.2:c.1462C>T	NP_001340521.1:p.Gln488Ter
NM_001353593.1:c.1327C>T	NP_001340522.1:p.Gln443Ter
NM_001353593.2:c.1327C>T	NP_001340522.1:p.Gln443Ter
NM_001353594.1:c.1276C>T	NP_001340523.1:p.Gln426Ter
NM_001353594.2:c.1276C>T	NP_001340523.1:p.Gln426Ter
NM_001353595.1:c.1174C>T	NP_001340524.1:p.Gln392Ter
NM_001353595.2:c.1174C>T	NP_001340524.1:p.Gln392Ter
NM_001353596.1:c.1174C>T	NP_001340525.1:p.Gln392Ter
NM_001353596.2:c.1174C>T	NP_001340525.1:p.Gln392Ter
NM_001353597.1:c.1123C>T	NP_001340526.1:p.Gln375Ter
NM_001353597.2:c.1123C>T	NP_001340526.1:p.Gln375Ter
NM_001353598.1:c.1111C>T	NP_001340527.1:p.Gln371Ter
NM_001353598.2:c.1111C>T	NP_001340527.1:p.Gln371Ter
NM_001353599.1:c.1111C>T	NP_001340528.1:p.Gln371Ter
NM_001353599.2:c.1111C>T	NP_001340528.1:p.Gln371Ter
NM_001353600.1:c.1111C>T	NP_001340529.1:p.Gln371Ter
NM_001353600.2:c.1111C>T	NP_001340529.1:p.Gln371Ter
NM_001353601.1:c.1111C>T	NP_001340530.1:p.Gln371Ter
NM_001353601.2:c.1111C>T	NP_001340530.1:p.Gln371Ter
NM_001353602.1:c.799C>T	NP_001340531.1:p.Gln267Ter
NM_001353602.2:c.799C>T	NP_001340531.1:p.Gln267Ter
NM_001353603.1:c.799C>T	NP_001340532.1:p.Gln267Ter
NM_001353603.2:c.799C>T	NP_001340532.1:p.Gln267Ter
NM_001353604.1:c.799C>T	NP_001340533.1:p.Gln267Ter
NM_001353604.2:c.799C>T	NP_001340533.1:p.Gln267Ter
NM_001353605.1:c.799C>T	NP_001340534.1:p.Gln267Ter
NM_001353605.2:c.799C>T	NP_001340534.1:p.Gln267Ter
NM_001353606.1:c.799C>T	NP_001340535.1:p.Gln267Ter
NM_001353606.2:c.799C>T	NP_001340535.1:p.Gln267Ter
NM_001353607.1:c.799C>T	NP_001340536.1:p.Gln267Ter
NM_001353607.2:c.799C>T	NP_001340536.1:p.Gln267Ter
NM_001353608.1:c.799C>T	NP_001340537.1:p.Gln267Ter
NM_001353608.2:c.799C>T	NP_001340537.1:p.Gln267Ter
NM_001353609.1:c.799C>T	NP_001340538.1:p.Gln267Ter
NM_001353609.2:c.799C>T	NP_001340538.1:p.Gln267Ter
NM_001353610.1:c.855C>T	NP_001340539.1:p.Cys285=
NM_001353610.2:c.855C>T	NP_001340539.1:p.Cys285=
NM_005050.3:c.1588C>T	NP_005041.1:p.Gln530Ter
NM_020324.2:c.1111C>T	NP_064720.1:p.Gln371Ter
NM_020324.3:c.1111C>T	NP_064720.1:p.Gln371Ter
NM_020325.2:c.1588C>T	NP_064730.1:p.Gln530Ter
NM_020325.3:c.1588C>T	NP_064730.1:p.Gln530Ter
NR_003256.2:n.1612C>T
NR_003256.3:n.1482C>T
NR_148466.1:n.1548C>T
NR_148466.2:n.1418C>T
NR_148467.1:n.1329C>T
NR_148467.2:n.1199C>T
NR_148468.1:n.1306C>T
NR_148468.2:n.1176C>T
NR_148469.1:n.1553C>T
NR_148469.2:n.1423C>T
NR_148470.1:n.1515C>T
NR_148470.2:n.1385C>T
NR_148471.1:n.1553C>T
NR_148471.2:n.1423C>T
NR_148472.1:n.1602C>T
NR_148472.2:n.1472C>T
NR_148473.1:n.1529C>T
NR_148473.2:n.1399C>T
NR_148474.1:n.1648C>T
NR_148474.2:n.1518C>T
ENST00000356924.8:c.1588C>T	ENSP00000349396.4:p.Gln530Ter
ENST00000465085.2:n.784C>T
ENST00000474270.1:c.639C>T
ENST00000481348.5:c.479C>T
ENST00000481935.5:c.*1289C>T	ENSP00000436782.1:n.*1289C>T
ENST00000484380.2:n.1776C>T
ENST00000553486.5:c.*1289C>T	ENSP00000450611.1:n.*1289C>T
ENST00000553745.5:c.*1298C>T	ENSP00000451778.1:n.*1298C>T
ENST00000555904.1:c.135C>T
ENST00000556517.1:c.479C>T
XM_005267939.2:c.1174C>T	XP_005267996.1:p.Gln392Ter
XM_005267940.2:c.1174C>T	XP_005267997.1:p.Gln392Ter
XM_005267940.3:c.1174C>T	XP_005267997.1:p.Gln392Ter
XM_005267941.3:c.1174C>T	XP_005267998.1:p.Gln392Ter
XM_005267942.3:c.1174C>T	XP_005267999.1:p.Gln392Ter
XM_005267942.4:c.1174C>T	XP_005267999.1:p.Gln392Ter
XM_005267946.2:c.1111C>T	XP_005268003.1:p.Gln371Ter
XM_005267949.2:c.1111C>T	XP_005268006.1:p.Gln371Ter
XM_005267953.2:c.799C>T	XP_005268010.1:p.Gln267Ter
XM_006720223.1:c.1327C>T	XP_006720286.1:p.Gln443Ter
XM_011537041.1:c.1315C>T	XP_011535343.1:p.Gln439Ter
XM_011537041.2:c.1315C>T	XP_011535343.1:p.Gln439Ter
XM_011537042.1:c.1111C>T	XP_011535344.1:p.Gln371Ter
XM_011537043.1:c.799C>T	XP_011535345.1:p.Gln267Ter
XM_017021531.2:c.1644C>T	XP_016877020.1:p.Cys548=
XM_017021534.1:c.976C>T	XP_016877023.1:p.Gln326Ter
XM_017021539.1:c.799C>T	XP_016877028.1:p.Gln267Ter
XM_017021540.2:c.799C>T	XP_016877029.1:p.Gln267Ter
XM_017021541.2:c.799C>T	XP_016877030.1:p.Gln267Ter
XM_017021542.1:c.799C>T	XP_016877031.1:p.Gln267Ter
XM_024449675.1:c.1201C>T	XP_024305443.1:p.Gln401Ter
XM_024449676.1:c.1111C>T	XP_024305444.1:p.Gln371Ter
XM_024449677.1:c.1111C>T	XP_024305445.1:p.Gln371Ter
XM_024449678.1:c.799C>T	XP_024305446.1:p.Gln267Ter
XM_024449679.1:c.799C>T	XP_024305447.1:p.Gln267Ter
XR_001750476.2:n.1719C>T
XR_001750478.2:n.2091C>T
XR_001750480.2:n.1627C>T
XR_001750482.1:n.1654C>T
XR_001750484.1:n.1971C>T
XR_002957565.1:n.1613C>T
XR_245710.2:n.1581C>T
XR_245710.4:n.1571C>T
XR_943500.3:n.2183C>T