Canonical Allele Identifier: CA10576237
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226089
ClinVar RCV Id: RCV000211474
dbSNP Id: rs875989867
gnomAD v4: 1-75749452-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749452A>G , CM000663.2:g.75749452A>G GRCh38
NC_000001.10:g.76215137A>G , CM000663.1:g.76215137A>G GRCh37
NC_000001.9:g.75987725A>G NCBI36
NG_007045.2:g.30095A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.742A>G MANE Select ENSP00000359878.5:p.Arg248Gly
ENST00000473018.3:n.2866A>G
ENST00000532207.6:n.1631A>G
ENST00000541113.6:c.742A>G ENSP00000442324.2:p.Arg248Gly
ENST00000679509.1:n.1704A>G
ENST00000679530.1:c.*510A>G ENSP00000506454.1:n.*510A>G
ENST00000679615.1:n.2757A>G
ENST00000679687.1:c.304A>G ENSP00000506598.1:p.Arg102Gly
ENST00000679704.1:c.*508A>G ENSP00000505117.1:n.*508A>G
ENST00000679709.1:c.*705A>G ENSP00000506623.1:n.*705A>G
ENST00000679976.1:c.*326A>G ENSP00000505565.1:n.*326A>G
ENST00000680166.1:n.4031A>G
ENST00000680517.1:c.*130A>G ENSP00000505803.1:n.*130A>G
ENST00000680582.1:n.1704A>G
ENST00000680613.1:c.*113A>G ENSP00000506114.1:n.*113A>G
ENST00000680662.1:c.*656A>G ENSP00000505080.1:n.*656A>G
ENST00000680691.1:c.*405A>G ENSP00000506487.1:n.*405A>G
ENST00000680694.1:c.*330A>G ENSP00000505658.1:n.*330A>G
ENST00000680743.1:c.*409A>G ENSP00000505073.1:n.*409A>G
ENST00000680749.1:c.*27A>G ENSP00000505122.1:n.*27A>G
ENST00000680798.1:c.*217A>G ENSP00000505670.1:n.*217A>G
ENST00000680805.1:c.709-999A>G ENSP00000505447.1:n.709-999A>G
ENST00000680844.1:c.*526A>G ENSP00000506541.1:n.*526A>G
ENST00000680948.1:c.*609A>G ENSP00000505441.1:n.*609A>G
ENST00000680964.1:c.742A>G ENSP00000505961.1:p.Arg248Gly
ENST00000681037.1:c.*2226A>G ENSP00000506025.1:n.*2226A>G
ENST00000681063.1:c.600-999A>G ENSP00000506616.1:n.600-999A>G
ENST00000681209.1:c.*397A>G ENSP00000505877.1:n.*397A>G
ENST00000681278.1:n.1099A>G
ENST00000681289.1:n.4737A>G
ENST00000681361.1:c.*409A>G ENSP00000506679.1:n.*409A>G
ENST00000681430.1:c.742A>G ENSP00000506301.1:p.Arg248Gly
ENST00000681446.1:c.*324A>G ENSP00000506244.1:n.*324A>G
ENST00000681450.1:c.*413A>G ENSP00000505660.1:n.*413A>G
ENST00000681548.1:c.*328A>G ENSP00000505275.1:n.*328A>G
ENST00000681616.1:c.*401A>G ENSP00000505111.1:n.*401A>G
ENST00000681621.1:c.*326A>G ENSP00000505770.1:n.*326A>G
ENST00000681680.1:n.2837A>G
ENST00000681720.1:c.*197A>G ENSP00000505438.1:n.*197A>G
ENST00000681730.1:n.964A>G
ENST00000681790.1:c.484A>G ENSP00000505130.1:p.Arg162Gly
ENST00000681837.1:n.1358A>G
ENST00000681913.1:n.2866A>G
ENST00000681916.1:c.*510A>G ENSP00000506477.1:n.*510A>G
ENST00000681930.1:n.2866A>G
ENST00000370834.9:c.841A>G ENSP00000359871.5:p.Arg281Gly
ENST00000370841.8:c.742A>G ENSP00000359878.4:p.Arg248Gly
ENST00000420607.6:c.754A>G ENSP00000409612.2:p.Arg252Gly
ENST00000525808.5:c.*328A>G ENSP00000434823.1:n.*328A>G
ENST00000526129.5:c.*526A>G ENSP00000434092.1:n.*526A>G
ENST00000526196.5:c.*510A>G ENSP00000431953.1:n.*510A>G
ENST00000526930.1:n.515A>G
ENST00000529059.5:n.651A>G
ENST00000530953.6:c.*239A>G ENSP00000431372.1:n.*239A>G
ENST00000532207.5:n.472A>G
ENST00000532509.5:c.*506A>G ENSP00000432522.1:n.*506A>G
ENST00000534334.5:c.*326A>G ENSP00000435584.1:n.*326A>G
ENST00000541113.5:c.634A>G ENSP00000442324.1:p.Arg212Gly
NM_000016.5:c.742A>G NP_000007.1:p.Arg248Gly
NM_001127328.2:c.754A>G NP_001120800.1:p.Arg252Gly
NM_001286042.1:c.634A>G NP_001272971.1:p.Arg212Gly
NM_001286043.1:c.841A>G NP_001272972.1:p.Arg281Gly
NM_001286044.1:c.175A>G NP_001272973.1:p.Arg59Gly
NM_000016.6:c.742A>G MANE Select NP_000007.1:p.Arg248Gly
NM_001127328.3:c.754A>G NP_001120800.1:p.Arg252Gly
NM_001286042.2:c.634A>G NP_001272971.1:p.Arg212Gly
NM_001286043.2:c.841A>G NP_001272972.1:p.Arg281Gly
NM_001286044.2:c.175A>G NP_001272973.1:p.Arg59Gly