Canonical Allele Identifier: CA7267013
Community Standard Title: NM_005050.4(ABCD4):c.936+11C>G
Gene: ABCD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74292737G>C , CM000676.2:g.74292737G>C GRCh38
NC_000014.8:g.74759440G>C , CM000676.1:g.74759440G>C GRCh37
NC_000014.7:g.73829193G>C NCBI36
NG_032875.1:g.15328C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005050.4:c.936+11C>G MANE Select NP_005041.1:n.936+11C>G
ENST00000356924.9:c.936+11C>G MANE Select ENSP00000349396.4:n.936+11C>G
NM_001353591.1:c.810+11C>G NP_001340520.1:n.810+11C>G
NM_001353591.2:c.810+11C>G NP_001340520.1:n.810+11C>G
NM_001353592.1:c.810+11C>G NP_001340521.1:n.810+11C>G
NM_001353592.2:c.810+11C>G NP_001340521.1:n.810+11C>G
NM_001353593.1:c.675+11C>G NP_001340522.1:n.675+11C>G
NM_001353593.2:c.675+11C>G NP_001340522.1:n.675+11C>G
NM_001353594.1:c.624+11C>G NP_001340523.1:n.624+11C>G
NM_001353594.2:c.624+11C>G NP_001340523.1:n.624+11C>G
NM_001353595.1:c.522+11C>G NP_001340524.1:n.522+11C>G
NM_001353595.2:c.522+11C>G NP_001340524.1:n.522+11C>G
NM_001353596.1:c.522+11C>G NP_001340525.1:n.522+11C>G
NM_001353596.2:c.522+11C>G NP_001340525.1:n.522+11C>G
NM_001353597.1:c.471+11C>G NP_001340526.1:n.471+11C>G
NM_001353597.2:c.471+11C>G NP_001340526.1:n.471+11C>G
NM_001353598.1:c.459+11C>G NP_001340527.1:n.459+11C>G
NM_001353598.2:c.459+11C>G NP_001340527.1:n.459+11C>G
NM_001353599.1:c.459+11C>G NP_001340528.1:n.459+11C>G
NM_001353599.2:c.459+11C>G NP_001340528.1:n.459+11C>G
NM_001353600.1:c.459+11C>G NP_001340529.1:n.459+11C>G
NM_001353600.2:c.459+11C>G NP_001340529.1:n.459+11C>G
NM_001353601.1:c.459+11C>G NP_001340530.1:n.459+11C>G
NM_001353601.2:c.459+11C>G NP_001340530.1:n.459+11C>G
NM_001353602.1:c.147+11C>G NP_001340531.1:n.147+11C>G
NM_001353602.2:c.147+11C>G NP_001340531.1:n.147+11C>G
NM_001353603.1:c.147+11C>G NP_001340532.1:n.147+11C>G
NM_001353603.2:c.147+11C>G NP_001340532.1:n.147+11C>G
NM_001353604.1:c.147+11C>G NP_001340533.1:n.147+11C>G
NM_001353604.2:c.147+11C>G NP_001340533.1:n.147+11C>G
NM_001353605.1:c.147+11C>G NP_001340534.1:n.147+11C>G
NM_001353605.2:c.147+11C>G NP_001340534.1:n.147+11C>G
NM_001353606.1:c.147+11C>G NP_001340535.1:n.147+11C>G
NM_001353606.2:c.147+11C>G NP_001340535.1:n.147+11C>G
NM_001353607.1:c.147+11C>G NP_001340536.1:n.147+11C>G
NM_001353607.2:c.147+11C>G NP_001340536.1:n.147+11C>G
NM_001353608.1:c.147+11C>G NP_001340537.1:n.147+11C>G
NM_001353608.2:c.147+11C>G NP_001340537.1:n.147+11C>G
NM_001353609.1:c.147+11C>G NP_001340538.1:n.147+11C>G
NM_001353609.2:c.147+11C>G NP_001340538.1:n.147+11C>G
NM_001353610.1:c.147+11C>G NP_001340539.1:n.147+11C>G
NM_001353610.2:c.147+11C>G NP_001340539.1:n.147+11C>G
NM_005050.3:c.936+11C>G NP_005041.1:n.936+11C>G
NM_020324.2:c.459+11C>G NP_064720.1:n.459+11C>G
NM_020324.3:c.459+11C>G NP_064720.1:n.459+11C>G
NM_020325.2:c.936+11C>G NP_064730.1:n.936+11C>G
NM_020325.3:c.936+11C>G NP_064730.1:n.936+11C>G
NR_003256.2:n.960+11C>G
NR_003256.3:n.830+11C>G
NR_148466.1:n.988+11C>G
NR_148466.2:n.858+11C>G
NR_148467.1:n.769+11C>G
NR_148467.2:n.639+11C>G
NR_148468.1:n.746+11C>G
NR_148468.2:n.616+11C>G
NR_148469.1:n.993+11C>G
NR_148469.2:n.863+11C>G
NR_148470.1:n.955+11C>G
NR_148470.2:n.825+11C>G
NR_148471.1:n.993+11C>G
NR_148471.2:n.863+11C>G
NR_148472.1:n.1042+11C>G
NR_148472.2:n.912+11C>G
NR_148473.1:n.969+11C>G
NR_148473.2:n.839+11C>G
NR_148474.1:n.1088+11C>G
NR_148474.2:n.958+11C>G
ENST00000356924.8:c.936+11C>G ENSP00000349396.4:n.936+11C>G
ENST00000460308.6:c.*542+11C>G ENSP00000436527.2:n.*542+11C>G
ENST00000469672.5:c.*462+11C>G ENSP00000434626.1:n.*462+11C>G
ENST00000474270.1:c.79+11C>G
ENST00000481935.5:c.*637+11C>G ENSP00000436782.1:n.*637+11C>G
ENST00000496015.5:n.613+11C>G
ENST00000553486.5:c.*637+11C>G ENSP00000450611.1:n.*637+11C>G
ENST00000553745.5:c.*646+11C>G ENSP00000451778.1:n.*646+11C>G
ENST00000553998.5:c.386+11C>G
ENST00000555617.5:c.*336+11C>G ENSP00000451521.1:n.*336+11C>G
ENST00000556119.5:c.*557+11C>G ENSP00000450491.1:n.*557+11C>G
ENST00000557554.5:n.371-2238C>G
XM_005267938.3:c.936+11C>G XP_005267995.1:n.936+11C>G
XM_005267939.2:c.522+11C>G XP_005267996.1:n.522+11C>G
XM_005267940.2:c.522+11C>G XP_005267997.1:n.522+11C>G
XM_005267940.3:c.522+11C>G XP_005267997.1:n.522+11C>G
XM_005267941.3:c.522+11C>G XP_005267998.1:n.522+11C>G
XM_005267942.3:c.522+11C>G XP_005267999.1:n.522+11C>G
XM_005267942.4:c.522+11C>G XP_005267999.1:n.522+11C>G
XM_005267946.2:c.459+11C>G XP_005268003.1:n.459+11C>G
XM_005267949.2:c.459+11C>G XP_005268006.1:n.459+11C>G
XM_005267953.2:c.147+11C>G XP_005268010.1:n.147+11C>G
XM_006720223.1:c.675+11C>G XP_006720286.1:n.675+11C>G
XM_011537041.1:c.663+11C>G XP_011535343.1:n.663+11C>G
XM_011537041.2:c.663+11C>G XP_011535343.1:n.663+11C>G
XM_011537042.1:c.459+11C>G XP_011535344.1:n.459+11C>G
XM_011537043.1:c.147+11C>G XP_011535345.1:n.147+11C>G
XM_017021531.2:c.936+11C>G XP_016877020.1:n.936+11C>G
XM_017021534.1:c.324+11C>G XP_016877023.1:n.324+11C>G
XM_017021539.1:c.147+11C>G XP_016877028.1:n.147+11C>G
XM_017021540.2:c.147+11C>G XP_016877029.1:n.147+11C>G
XM_017021541.2:c.147+11C>G XP_016877030.1:n.147+11C>G
XM_017021542.1:c.147+11C>G XP_016877031.1:n.147+11C>G
XM_024449675.1:c.549+11C>G XP_024305443.1:n.549+11C>G
XM_024449676.1:c.459+11C>G XP_024305444.1:n.459+11C>G
XM_024449677.1:c.459+11C>G XP_024305445.1:n.459+11C>G
XM_024449678.1:c.147+11C>G XP_024305446.1:n.147+11C>G
XM_024449679.1:c.147+11C>G XP_024305447.1:n.147+11C>G
XR_001750476.2:n.1011+11C>G
XR_001750478.2:n.1011+11C>G
XR_001750480.2:n.1011+11C>G
XR_001750481.2:n.1011+11C>G
XR_001750482.1:n.946+11C>G
XR_001750484.1:n.891+11C>G
XR_002957565.1:n.905+11C>G
XR_245710.2:n.1021+11C>G
XR_245710.4:n.1011+11C>G
XR_943500.1:n.1021+11C>G
XR_943500.3:n.1011+11C>G