Canonical Allele Identifier: CA7266613

Gene: ABCD4

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74286699A>G , CM000676.2:g.74286699A>G	GRCh38
NC_000014.8:g.74753402A>G , CM000676.1:g.74753402A>G	GRCh37
NC_000014.7:g.73823155A>G	NCBI36
NG_032875.1:g.21366T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005050.4:c.1752+2T>C MANE Select	NP_005041.1:n.1752+2T>C
ENST00000356924.9:c.1752+2T>C MANE Select	ENSP00000349396.4:n.1752+2T>C
NM_001353591.1:c.1626+2T>C	NP_001340520.1:n.1626+2T>C
NM_001353591.2:c.1626+2T>C	NP_001340520.1:n.1626+2T>C
NM_001353592.1:c.1628T>C	NP_001340521.1:p.Val543Ala
NM_001353592.2:c.1628T>C	NP_001340521.1:p.Val543Ala
NM_001353593.1:c.1491+2T>C	NP_001340522.1:n.1491+2T>C
NM_001353593.2:c.1491+2T>C	NP_001340522.1:n.1491+2T>C
NM_001353594.1:c.1442T>C	NP_001340523.1:p.Val481Ala
NM_001353594.2:c.1442T>C	NP_001340523.1:p.Val481Ala
NM_001353595.1:c.1338+2T>C	NP_001340524.1:n.1338+2T>C
NM_001353595.2:c.1338+2T>C	NP_001340524.1:n.1338+2T>C
NM_001353596.1:c.1338+2T>C	NP_001340525.1:n.1338+2T>C
NM_001353596.2:c.1338+2T>C	NP_001340525.1:n.1338+2T>C
NM_001353597.1:c.1287+2T>C	NP_001340526.1:n.1287+2T>C
NM_001353597.2:c.1287+2T>C	NP_001340526.1:n.1287+2T>C
NM_001353598.1:c.1275+2T>C	NP_001340527.1:n.1275+2T>C
NM_001353598.2:c.1275+2T>C	NP_001340527.1:n.1275+2T>C
NM_001353599.1:c.1277T>C	NP_001340528.1:p.Val426Ala
NM_001353599.2:c.1277T>C	NP_001340528.1:p.Val426Ala
NM_001353600.1:c.1277T>C	NP_001340529.1:p.Val426Ala
NM_001353600.2:c.1277T>C	NP_001340529.1:p.Val426Ala
NM_001353601.1:c.1277T>C	NP_001340530.1:p.Val426Ala
NM_001353601.2:c.1277T>C	NP_001340530.1:p.Val426Ala
NM_001353602.1:c.963+2T>C	NP_001340531.1:n.963+2T>C
NM_001353602.2:c.963+2T>C	NP_001340531.1:n.963+2T>C
NM_001353603.1:c.963+2T>C	NP_001340532.1:n.963+2T>C
NM_001353603.2:c.963+2T>C	NP_001340532.1:n.963+2T>C
NM_001353604.1:c.963+2T>C	NP_001340533.1:n.963+2T>C
NM_001353604.2:c.963+2T>C	NP_001340533.1:n.963+2T>C
NM_001353605.1:c.963+2T>C	NP_001340534.1:n.963+2T>C
NM_001353605.2:c.963+2T>C	NP_001340534.1:n.963+2T>C
NM_001353606.1:c.965T>C	NP_001340535.1:p.Val322Ala
NM_001353606.2:c.965T>C	NP_001340535.1:p.Val322Ala
NM_001353607.1:c.965T>C	NP_001340536.1:p.Val322Ala
NM_001353607.2:c.965T>C	NP_001340536.1:p.Val322Ala
NM_001353608.1:c.965T>C	NP_001340537.1:p.Val322Ala
NM_001353608.2:c.965T>C	NP_001340537.1:p.Val322Ala
NM_001353609.1:c.965T>C	NP_001340538.1:p.Val322Ala
NM_001353609.2:c.965T>C	NP_001340538.1:p.Val322Ala
NM_001353610.1:c.*91T>C	NP_001340539.1:n.*91T>C
NM_001353610.2:c.*91T>C	NP_001340539.1:n.*91T>C
NM_005050.3:c.1752+2T>C	NP_005041.1:n.1752+2T>C
NM_020324.2:c.1275+2T>C	NP_064720.1:n.1275+2T>C
NM_020324.3:c.1275+2T>C	NP_064720.1:n.1275+2T>C
NM_020325.2:c.1754T>C	NP_064730.1:p.Val585Ala
NM_020325.3:c.1754T>C	NP_064730.1:p.Val585Ala
NR_003256.2:n.1776+2T>C
NR_003256.3:n.1646+2T>C
NR_148466.1:n.1712+2T>C
NR_148466.2:n.1582+2T>C
NR_148467.1:n.1493+2T>C
NR_148467.2:n.1363+2T>C
NR_148468.1:n.1470+2T>C
NR_148468.2:n.1340+2T>C
NR_148469.1:n.1717+2T>C
NR_148469.2:n.1587+2T>C
NR_148470.1:n.1681T>C
NR_148470.2:n.1551T>C
NR_148471.1:n.1719T>C
NR_148471.2:n.1589T>C
NR_148472.1:n.1766+2T>C
NR_148472.2:n.1636+2T>C
NR_148473.1:n.1693+2T>C
NR_148473.2:n.1563+2T>C
NR_148474.1:n.1814T>C
NR_148474.2:n.1684T>C
ENST00000356924.8:c.1752+2T>C	ENSP00000349396.4:n.1752+2T>C
ENST00000465085.2:n.950T>C
ENST00000481348.5:c.643+2T>C
ENST00000481935.5:c.*1455T>C	ENSP00000436782.1:n.*1455T>C
ENST00000553486.5:c.*1453+2T>C	ENSP00000450611.1:n.*1453+2T>C
ENST00000553745.5:c.*1464T>C	ENSP00000451778.1:n.*1464T>C
ENST00000555904.1:c.299+2T>C
ENST00000556517.1:c.645T>C
XM_005267939.2:c.1338+2T>C	XP_005267996.1:n.1338+2T>C
XM_005267940.2:c.1338+2T>C	XP_005267997.1:n.1338+2T>C
XM_005267940.3:c.1338+2T>C	XP_005267997.1:n.1338+2T>C
XM_005267941.3:c.1338+2T>C	XP_005267998.1:n.1338+2T>C
XM_005267942.3:c.1338+2T>C	XP_005267999.1:n.1338+2T>C
XM_005267942.4:c.1338+2T>C	XP_005267999.1:n.1338+2T>C
XM_005267946.2:c.1275+2T>C	XP_005268003.1:n.1275+2T>C
XM_005267949.2:c.1275+2T>C	XP_005268006.1:n.1275+2T>C
XM_005267953.2:c.963+2T>C	XP_005268010.1:n.963+2T>C
XM_006720223.1:c.1491+2T>C	XP_006720286.1:n.1491+2T>C
XM_011537041.1:c.1479+2T>C	XP_011535343.1:n.1479+2T>C
XM_011537041.2:c.1479+2T>C	XP_011535343.1:n.1479+2T>C
XM_011537042.1:c.1275+2T>C	XP_011535344.1:n.1275+2T>C
XM_011537043.1:c.963+2T>C	XP_011535345.1:n.963+2T>C
XM_017021531.2:c.*91T>C	XP_016877020.1:n.*91T>C
XM_017021534.1:c.1140+2T>C	XP_016877023.1:n.1140+2T>C
XM_017021539.1:c.963+2T>C	XP_016877028.1:n.963+2T>C
XM_017021540.2:c.963+2T>C	XP_016877029.1:n.963+2T>C
XM_017021541.2:c.963+2T>C	XP_016877030.1:n.963+2T>C
XM_017021542.1:c.963+2T>C	XP_016877031.1:n.963+2T>C
XM_024449675.1:c.1365+2T>C	XP_024305443.1:n.1365+2T>C
XM_024449676.1:c.1275+2T>C	XP_024305444.1:n.1275+2T>C
XM_024449677.1:c.1275+2T>C	XP_024305445.1:n.1275+2T>C
XM_024449678.1:c.963+2T>C	XP_024305446.1:n.963+2T>C
XM_024449679.1:c.963+2T>C	XP_024305447.1:n.963+2T>C
XR_001750476.2:n.1883+2T>C
XR_001750478.2:n.2255+2T>C
XR_001750480.2:n.1791+2T>C
XR_001750482.1:n.1818+2T>C
XR_001750484.1:n.2135+2T>C
XR_002957565.1:n.1777+2T>C
XR_245710.2:n.1745+2T>C
XR_245710.4:n.1735+2T>C
XR_943500.3:n.2347+2T>C