Canonical Allele Identifier: CA340817844
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761127A>C , CM000663.2:g.75761127A>C GRCh38
NC_000001.10:g.76226812A>C , CM000663.1:g.76226812A>C GRCh37
NC_000001.9:g.75999400A>C NCBI36
NG_007045.2:g.41770A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.951A>C MANE Select ENSP00000359878.5:p.Gln317His
ENST00000473018.3:n.3075A>C
ENST00000532207.6:n.1962A>C
ENST00000541113.6:c.855A>C ENSP00000442324.2:p.Gln285His
ENST00000679509.1:n.1913A>C
ENST00000679530.1:c.*719A>C ENSP00000506454.1:n.*719A>C
ENST00000679615.1:n.2966A>C
ENST00000679687.1:c.513A>C ENSP00000506598.1:p.Gln171His
ENST00000679704.1:c.*717A>C ENSP00000505117.1:n.*717A>C
ENST00000679709.1:c.*914A>C ENSP00000506623.1:n.*914A>C
ENST00000679976.1:c.*535A>C ENSP00000505565.1:n.*535A>C
ENST00000680166.1:n.4240A>C
ENST00000680315.1:n.834A>C
ENST00000680517.1:c.*339A>C ENSP00000505803.1:n.*339A>C
ENST00000680582.1:n.1913A>C
ENST00000680613.1:c.*444A>C ENSP00000506114.1:n.*444A>C
ENST00000680662.1:c.*865A>C ENSP00000505080.1:n.*865A>C
ENST00000680691.1:c.*614A>C ENSP00000506487.1:n.*614A>C
ENST00000680694.1:c.*539A>C ENSP00000505658.1:n.*539A>C
ENST00000680743.1:c.*740A>C ENSP00000505073.1:n.*740A>C
ENST00000680749.1:c.*236A>C ENSP00000505122.1:n.*236A>C
ENST00000680798.1:c.*426A>C ENSP00000505670.1:n.*426A>C
ENST00000680805.1:c.810A>C ENSP00000505447.1:p.Gln270His
ENST00000680844.1:c.*735A>C ENSP00000506541.1:n.*735A>C
ENST00000680948.1:c.*818A>C ENSP00000505441.1:n.*818A>C
ENST00000680964.1:c.*44A>C ENSP00000505961.1:n.*44A>C
ENST00000681037.1:c.*2435A>C ENSP00000506025.1:n.*2435A>C
ENST00000681063.1:c.*220A>C ENSP00000506616.1:n.*220A>C
ENST00000681209.1:c.*606A>C ENSP00000505877.1:n.*606A>C
ENST00000681278.1:n.1653A>C
ENST00000681289.1:n.4946A>C
ENST00000681361.1:c.*618A>C ENSP00000506679.1:n.*618A>C
ENST00000681430.1:c.*44A>C ENSP00000506301.1:n.*44A>C
ENST00000681446.1:c.*655A>C ENSP00000506244.1:n.*655A>C
ENST00000681450.1:c.*622A>C ENSP00000505660.1:n.*622A>C
ENST00000681548.1:c.*537A>C ENSP00000505275.1:n.*537A>C
ENST00000681616.1:c.*610A>C ENSP00000505111.1:n.*610A>C
ENST00000681621.1:c.*535A>C ENSP00000505770.1:n.*535A>C
ENST00000681680.1:n.3046A>C
ENST00000681720.1:c.*406A>C ENSP00000505438.1:n.*406A>C
ENST00000681730.1:n.1173A>C
ENST00000681790.1:c.693A>C ENSP00000505130.1:p.Gln231His
ENST00000681837.1:n.1567A>C
ENST00000681913.1:n.3197A>C
ENST00000681916.1:c.*719A>C ENSP00000506477.1:n.*719A>C
ENST00000681930.1:n.3075A>C
ENST00000370834.9:c.1050A>C ENSP00000359871.5:p.Gln350His
ENST00000370841.8:c.951A>C ENSP00000359878.4:p.Gln317His
ENST00000420607.6:c.963A>C ENSP00000409612.2:p.Gln321His
ENST00000481374.1:n.224A>C
ENST00000525808.5:c.*537A>C ENSP00000434823.1:n.*537A>C
ENST00000526129.5:c.*735A>C ENSP00000434092.1:n.*735A>C
ENST00000526196.5:c.*719A>C ENSP00000431953.1:n.*719A>C
ENST00000528016.1:c.160-8050A>C ENSP00000434284.1:n.160-8050A>C
ENST00000529059.5:n.860A>C
ENST00000532207.5:n.681A>C
ENST00000534334.5:c.*692A>C ENSP00000435584.1:n.*692A>C
ENST00000541113.5:c.843A>C ENSP00000442324.1:p.Gln281His
NM_000016.5:c.951A>C NP_000007.1:p.Gln317His
NM_001127328.2:c.963A>C NP_001120800.1:p.Gln321His
NM_001286042.1:c.843A>C NP_001272971.1:p.Gln281His
NM_001286043.1:c.1050A>C NP_001272972.1:p.Gln350His
NM_001286044.1:c.384A>C NP_001272973.1:p.Gln128His
NM_000016.6:c.951A>C MANE Select NP_000007.1:p.Gln317His
NM_001127328.3:c.963A>C NP_001120800.1:p.Gln321His
NM_001286042.2:c.843A>C NP_001272971.1:p.Gln281His
NM_001286043.2:c.1050A>C NP_001272972.1:p.Gln350His
NM_001286044.2:c.384A>C NP_001272973.1:p.Gln128His