Canonical Allele Identifier: CA340816586
Gene: ACADM HGNC NCBI

Linked Data

dbSNP Id: rs1419420576
gnomAD v2: 1-76215143-A-G
gnomAD v4: 1-75749458-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749458A>G , CM000663.2:g.75749458A>G GRCh38
NC_000001.10:g.76215143A>G , CM000663.1:g.76215143A>G GRCh37
NC_000001.9:g.75987731A>G NCBI36
NG_007045.2:g.30101A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.748A>G MANE Select ENSP00000359878.5:p.Ile250Val
ENST00000473018.3:n.2872A>G
ENST00000532207.6:n.1637A>G
ENST00000541113.6:c.748A>G ENSP00000442324.2:p.Ile250Val
ENST00000679509.1:n.1710A>G
ENST00000679530.1:c.*516A>G ENSP00000506454.1:n.*516A>G
ENST00000679615.1:n.2763A>G
ENST00000679687.1:c.310A>G ENSP00000506598.1:p.Ile104Val
ENST00000679704.1:c.*514A>G ENSP00000505117.1:n.*514A>G
ENST00000679709.1:c.*711A>G ENSP00000506623.1:n.*711A>G
ENST00000679976.1:c.*332A>G ENSP00000505565.1:n.*332A>G
ENST00000680166.1:n.4037A>G
ENST00000680517.1:c.*136A>G ENSP00000505803.1:n.*136A>G
ENST00000680582.1:n.1710A>G
ENST00000680613.1:c.*119A>G ENSP00000506114.1:n.*119A>G
ENST00000680662.1:c.*662A>G ENSP00000505080.1:n.*662A>G
ENST00000680691.1:c.*411A>G ENSP00000506487.1:n.*411A>G
ENST00000680694.1:c.*336A>G ENSP00000505658.1:n.*336A>G
ENST00000680743.1:c.*415A>G ENSP00000505073.1:n.*415A>G
ENST00000680749.1:c.*33A>G ENSP00000505122.1:n.*33A>G
ENST00000680798.1:c.*223A>G ENSP00000505670.1:n.*223A>G
ENST00000680805.1:c.709-993A>G ENSP00000505447.1:n.709-993A>G
ENST00000680844.1:c.*532A>G ENSP00000506541.1:n.*532A>G
ENST00000680948.1:c.*615A>G ENSP00000505441.1:n.*615A>G
ENST00000680964.1:c.748A>G ENSP00000505961.1:p.Ile250Val
ENST00000681037.1:c.*2232A>G ENSP00000506025.1:n.*2232A>G
ENST00000681063.1:c.600-993A>G ENSP00000506616.1:n.600-993A>G
ENST00000681209.1:c.*403A>G ENSP00000505877.1:n.*403A>G
ENST00000681278.1:n.1105A>G
ENST00000681289.1:n.4743A>G
ENST00000681361.1:c.*415A>G ENSP00000506679.1:n.*415A>G
ENST00000681430.1:c.748A>G ENSP00000506301.1:p.Ile250Val
ENST00000681446.1:c.*330A>G ENSP00000506244.1:n.*330A>G
ENST00000681450.1:c.*419A>G ENSP00000505660.1:n.*419A>G
ENST00000681548.1:c.*334A>G ENSP00000505275.1:n.*334A>G
ENST00000681616.1:c.*407A>G ENSP00000505111.1:n.*407A>G
ENST00000681621.1:c.*332A>G ENSP00000505770.1:n.*332A>G
ENST00000681680.1:n.2843A>G
ENST00000681720.1:c.*203A>G ENSP00000505438.1:n.*203A>G
ENST00000681730.1:n.970A>G
ENST00000681790.1:c.490A>G ENSP00000505130.1:p.Ile164Val
ENST00000681837.1:n.1364A>G
ENST00000681913.1:n.2872A>G
ENST00000681916.1:c.*516A>G ENSP00000506477.1:n.*516A>G
ENST00000681930.1:n.2872A>G
ENST00000370834.9:c.847A>G ENSP00000359871.5:p.Ile283Val
ENST00000370841.8:c.748A>G ENSP00000359878.4:p.Ile250Val
ENST00000420607.6:c.760A>G ENSP00000409612.2:p.Ile254Val
ENST00000525808.5:c.*334A>G ENSP00000434823.1:n.*334A>G
ENST00000526129.5:c.*532A>G ENSP00000434092.1:n.*532A>G
ENST00000526196.5:c.*516A>G ENSP00000431953.1:n.*516A>G
ENST00000526930.1:n.521A>G
ENST00000529059.5:n.657A>G
ENST00000530953.6:c.*245A>G ENSP00000431372.1:n.*245A>G
ENST00000532207.5:n.478A>G
ENST00000532509.5:c.*512A>G ENSP00000432522.1:n.*512A>G
ENST00000534334.5:c.*332A>G ENSP00000435584.1:n.*332A>G
ENST00000541113.5:c.640A>G ENSP00000442324.1:p.Ile214Val
NM_000016.5:c.748A>G NP_000007.1:p.Ile250Val
NM_001127328.2:c.760A>G NP_001120800.1:p.Ile254Val
NM_001286042.1:c.640A>G NP_001272971.1:p.Ile214Val
NM_001286043.1:c.847A>G NP_001272972.1:p.Ile283Val
NM_001286044.1:c.181A>G NP_001272973.1:p.Ile61Val
NM_000016.6:c.748A>G MANE Select NP_000007.1:p.Ile250Val
NM_001127328.3:c.760A>G NP_001120800.1:p.Ile254Val
NM_001286042.2:c.640A>G NP_001272971.1:p.Ile214Val
NM_001286043.2:c.847A>G NP_001272972.1:p.Ile283Val
NM_001286044.2:c.181A>G NP_001272973.1:p.Ile61Val