Canonical Allele Identifier: CA252828
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 3590
ClinVar RCV Id: RCV000003773
dbSNP Id: rs121434276
gnomAD v4: 1-75749440-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749440T>C , CM000663.2:g.75749440T>C GRCh38
NC_000001.10:g.76215125T>C , CM000663.1:g.76215125T>C GRCh37
NC_000001.9:g.75987713T>C NCBI36
NG_007045.2:g.30083T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.730T>C MANE Select ENSP00000359878.5:p.Cys244Arg
ENST00000473018.3:n.2854T>C
ENST00000532207.6:n.1619T>C
ENST00000541113.6:c.730T>C ENSP00000442324.2:p.Cys244Arg
ENST00000679509.1:n.1692T>C
ENST00000679530.1:c.*498T>C ENSP00000506454.1:n.*498T>C
ENST00000679615.1:n.2745T>C
ENST00000679687.1:c.292T>C ENSP00000506598.1:p.Cys98Arg
ENST00000679704.1:c.*496T>C ENSP00000505117.1:n.*496T>C
ENST00000679709.1:c.*693T>C ENSP00000506623.1:n.*693T>C
ENST00000679976.1:c.*314T>C ENSP00000505565.1:n.*314T>C
ENST00000680166.1:n.4019T>C
ENST00000680517.1:c.*118T>C ENSP00000505803.1:n.*118T>C
ENST00000680582.1:n.1692T>C
ENST00000680613.1:c.*101T>C ENSP00000506114.1:n.*101T>C
ENST00000680662.1:c.*644T>C ENSP00000505080.1:n.*644T>C
ENST00000680691.1:c.*393T>C ENSP00000506487.1:n.*393T>C
ENST00000680694.1:c.*318T>C ENSP00000505658.1:n.*318T>C
ENST00000680743.1:c.*397T>C ENSP00000505073.1:n.*397T>C
ENST00000680749.1:c.*15T>C ENSP00000505122.1:n.*15T>C
ENST00000680798.1:c.*205T>C ENSP00000505670.1:n.*205T>C
ENST00000680805.1:c.709-1011T>C ENSP00000505447.1:n.709-1011T>C
ENST00000680844.1:c.*514T>C ENSP00000506541.1:n.*514T>C
ENST00000680948.1:c.*597T>C ENSP00000505441.1:n.*597T>C
ENST00000680964.1:c.730T>C ENSP00000505961.1:p.Cys244Arg
ENST00000681037.1:c.*2214T>C ENSP00000506025.1:n.*2214T>C
ENST00000681063.1:c.600-1011T>C ENSP00000506616.1:n.600-1011T>C
ENST00000681209.1:c.*385T>C ENSP00000505877.1:n.*385T>C
ENST00000681278.1:n.1087T>C
ENST00000681289.1:n.4725T>C
ENST00000681361.1:c.*397T>C ENSP00000506679.1:n.*397T>C
ENST00000681430.1:c.730T>C ENSP00000506301.1:p.Cys244Arg
ENST00000681446.1:c.*312T>C ENSP00000506244.1:n.*312T>C
ENST00000681450.1:c.*401T>C ENSP00000505660.1:n.*401T>C
ENST00000681548.1:c.*316T>C ENSP00000505275.1:n.*316T>C
ENST00000681616.1:c.*389T>C ENSP00000505111.1:n.*389T>C
ENST00000681621.1:c.*314T>C ENSP00000505770.1:n.*314T>C
ENST00000681680.1:n.2825T>C
ENST00000681720.1:c.*185T>C ENSP00000505438.1:n.*185T>C
ENST00000681730.1:n.952T>C
ENST00000681790.1:c.472T>C ENSP00000505130.1:p.Cys158Arg
ENST00000681837.1:n.1346T>C
ENST00000681913.1:n.2854T>C
ENST00000681916.1:c.*498T>C ENSP00000506477.1:n.*498T>C
ENST00000681930.1:n.2854T>C
ENST00000370834.9:c.829T>C ENSP00000359871.5:p.Cys277Arg
ENST00000370841.8:c.730T>C ENSP00000359878.4:p.Cys244Arg
ENST00000420607.6:c.742T>C ENSP00000409612.2:p.Cys248Arg
ENST00000525808.5:c.*316T>C ENSP00000434823.1:n.*316T>C
ENST00000526129.5:c.*514T>C ENSP00000434092.1:n.*514T>C
ENST00000526196.5:c.*498T>C ENSP00000431953.1:n.*498T>C
ENST00000526930.1:n.503T>C
ENST00000529059.5:n.639T>C
ENST00000530953.6:c.*227T>C ENSP00000431372.1:n.*227T>C
ENST00000532207.5:n.460T>C
ENST00000532509.5:c.*494T>C ENSP00000432522.1:n.*494T>C
ENST00000534334.5:c.*314T>C ENSP00000435584.1:n.*314T>C
ENST00000541113.5:c.622T>C ENSP00000442324.1:p.Cys208Arg
NM_000016.5:c.730T>C NP_000007.1:p.Cys244Arg
NM_001127328.2:c.742T>C NP_001120800.1:p.Cys248Arg
NM_001286042.1:c.622T>C NP_001272971.1:p.Cys208Arg
NM_001286043.1:c.829T>C NP_001272972.1:p.Cys277Arg
NM_001286044.1:c.163T>C NP_001272973.1:p.Cys55Arg
NM_000016.6:c.730T>C MANE Select NP_000007.1:p.Cys244Arg
NM_001127328.3:c.742T>C NP_001120800.1:p.Cys248Arg
NM_001286042.2:c.622T>C NP_001272971.1:p.Cys208Arg
NM_001286043.2:c.829T>C NP_001272972.1:p.Cys277Arg
NM_001286044.2:c.163T>C NP_001272973.1:p.Cys55Arg