Canonical Allele Identifier: CA7266933

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74292303C>T , CM000676.2:g.74292303C>T	GRCh38
NC_000014.8:g.74759006C>T , CM000676.1:g.74759006C>T	GRCh37
NC_000014.7:g.73828759C>T	NCBI36
NG_032875.1:g.15762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356924.9:c.1102G>A MANE Select	ENSP00000349396.4:p.Glu368Lys
ENST00000356924.8:c.1102G>A	ENSP00000349396.4:p.Glu368Lys
ENST00000469672.5:c.*628G>A	ENSP00000434626.1:n.*628G>A
ENST00000474270.1:c.245G>A
ENST00000481935.5:c.*803G>A	ENSP00000436782.1:n.*803G>A
ENST00000496015.5:n.779G>A
ENST00000553486.5:c.*803G>A	ENSP00000450611.1:n.*803G>A
ENST00000553745.5:c.*812G>A	ENSP00000451778.1:n.*812G>A
ENST00000557554.5:n.371-1804G>A
NM_005050.3:c.1102G>A	NP_005041.1:p.Glu368Lys
NR_003256.2:n.1126G>A
XM_005267938.3:c.1102G>A	XP_005267995.1:p.Glu368Lys
XM_005267939.2:c.688G>A	XP_005267996.1:p.Glu230Lys
XM_005267940.2:c.688G>A	XP_005267997.1:p.Glu230Lys
XM_005267941.3:c.688G>A	XP_005267998.1:p.Glu230Lys
XM_005267942.3:c.688G>A	XP_005267999.1:p.Glu230Lys
XM_005267946.2:c.625G>A	XP_005268003.1:p.Glu209Lys
XM_005267949.2:c.625G>A	XP_005268006.1:p.Glu209Lys
XM_005267953.2:c.313G>A	XP_005268010.1:p.Glu105Lys
XM_006720223.1:c.841G>A	XP_006720286.1:p.Glu281Lys
XM_011537041.1:c.829G>A	XP_011535343.1:p.Glu277Lys
XM_011537042.1:c.625G>A	XP_011535344.1:p.Glu209Lys
XM_011537043.1:c.313G>A	XP_011535345.1:p.Glu105Lys
XR_245710.2:n.1187G>A
XR_943500.1:n.1187G>A
NM_001353591.1:c.976G>A	NP_001340520.1:p.Glu326Lys
NM_001353592.1:c.976G>A	NP_001340521.1:p.Glu326Lys
NM_001353593.1:c.841G>A	NP_001340522.1:p.Glu281Lys
NM_001353594.1:c.790G>A	NP_001340523.1:p.Glu264Lys
NM_001353595.1:c.688G>A	NP_001340524.1:p.Glu230Lys
NM_001353596.1:c.688G>A	NP_001340525.1:p.Glu230Lys
NM_001353597.1:c.637G>A	NP_001340526.1:p.Glu213Lys
NM_001353598.1:c.625G>A	NP_001340527.1:p.Glu209Lys
NM_001353599.1:c.625G>A	NP_001340528.1:p.Glu209Lys
NM_001353600.1:c.625G>A	NP_001340529.1:p.Glu209Lys
NM_001353601.1:c.625G>A	NP_001340530.1:p.Glu209Lys
NM_001353602.1:c.313G>A	NP_001340531.1:p.Glu105Lys
NM_001353603.1:c.313G>A	NP_001340532.1:p.Glu105Lys
NM_001353604.1:c.313G>A	NP_001340533.1:p.Glu105Lys
NM_001353605.1:c.313G>A	NP_001340534.1:p.Glu105Lys
NM_001353606.1:c.313G>A	NP_001340535.1:p.Glu105Lys
NM_001353607.1:c.313G>A	NP_001340536.1:p.Glu105Lys
NM_001353608.1:c.313G>A	NP_001340537.1:p.Glu105Lys
NM_001353609.1:c.313G>A	NP_001340538.1:p.Glu105Lys
NM_001353610.1:c.313G>A	NP_001340539.1:p.Glu105Lys
NM_020324.2:c.625G>A	NP_064720.1:p.Glu209Lys
NM_020325.2:c.1102G>A	NP_064730.1:p.Glu368Lys
NR_148466.1:n.1154G>A
NR_148467.1:n.935G>A
NR_148468.1:n.912G>A
NR_148469.1:n.1159G>A
NR_148470.1:n.1121G>A
NR_148471.1:n.1159G>A
NR_148472.1:n.1208G>A
NR_148473.1:n.1135G>A
NR_148474.1:n.1254G>A
XM_005267940.3:c.688G>A	XP_005267997.1:p.Glu230Lys
XM_005267942.4:c.688G>A	XP_005267999.1:p.Glu230Lys
XM_011537041.2:c.829G>A	XP_011535343.1:p.Glu277Lys
XM_017021531.2:c.1102G>A	XP_016877020.1:p.Glu368Lys
XM_017021534.1:c.490G>A	XP_016877023.1:p.Glu164Lys
XM_017021539.1:c.313G>A	XP_016877028.1:p.Glu105Lys
XM_017021540.2:c.313G>A	XP_016877029.1:p.Glu105Lys
XM_017021541.2:c.313G>A	XP_016877030.1:p.Glu105Lys
XM_017021542.1:c.313G>A	XP_016877031.1:p.Glu105Lys
XM_024449675.1:c.715G>A	XP_024305443.1:p.Glu239Lys
XM_024449676.1:c.625G>A	XP_024305444.1:p.Glu209Lys
XM_024449677.1:c.625G>A	XP_024305445.1:p.Glu209Lys
XM_024449678.1:c.313G>A	XP_024305446.1:p.Glu105Lys
XM_024449679.1:c.313G>A	XP_024305447.1:p.Glu105Lys
XR_001750476.2:n.1177G>A
XR_001750478.2:n.1177G>A
XR_001750480.2:n.1177G>A
XR_001750481.2:n.1177G>A
XR_001750482.1:n.1112G>A
XR_001750484.1:n.1057G>A
XR_002957565.1:n.1071G>A
XR_245710.4:n.1177G>A
XR_943500.3:n.1177G>A
NM_005050.4:c.1102G>A MANE Select	NP_005041.1:p.Glu368Lys
NM_001353591.2:c.976G>A	NP_001340520.1:p.Glu326Lys
NM_001353592.2:c.976G>A	NP_001340521.1:p.Glu326Lys
NM_001353593.2:c.841G>A	NP_001340522.1:p.Glu281Lys
NM_001353594.2:c.790G>A	NP_001340523.1:p.Glu264Lys
NM_001353595.2:c.688G>A	NP_001340524.1:p.Glu230Lys
NM_001353596.2:c.688G>A	NP_001340525.1:p.Glu230Lys
NM_001353597.2:c.637G>A	NP_001340526.1:p.Glu213Lys
NM_001353598.2:c.625G>A	NP_001340527.1:p.Glu209Lys
NM_001353599.2:c.625G>A	NP_001340528.1:p.Glu209Lys
NM_001353600.2:c.625G>A	NP_001340529.1:p.Glu209Lys
NM_001353601.2:c.625G>A	NP_001340530.1:p.Glu209Lys
NM_001353602.2:c.313G>A	NP_001340531.1:p.Glu105Lys
NM_001353603.2:c.313G>A	NP_001340532.1:p.Glu105Lys
NM_001353604.2:c.313G>A	NP_001340533.1:p.Glu105Lys
NM_001353605.2:c.313G>A	NP_001340534.1:p.Glu105Lys
NM_001353606.2:c.313G>A	NP_001340535.1:p.Glu105Lys
NM_001353607.2:c.313G>A	NP_001340536.1:p.Glu105Lys
NM_001353608.2:c.313G>A	NP_001340537.1:p.Glu105Lys
NM_001353609.2:c.313G>A	NP_001340538.1:p.Glu105Lys
NM_001353610.2:c.313G>A	NP_001340539.1:p.Glu105Lys
NM_020324.3:c.625G>A	NP_064720.1:p.Glu209Lys
NM_020325.3:c.1102G>A	NP_064730.1:p.Glu368Lys
NR_003256.3:n.996G>A
NR_148466.2:n.1024G>A
NR_148467.2:n.805G>A
NR_148468.2:n.782G>A
NR_148469.2:n.1029G>A
NR_148470.2:n.991G>A
NR_148471.2:n.1029G>A
NR_148472.2:n.1078G>A
NR_148473.2:n.1005G>A
NR_148474.2:n.1124G>A