Canonical Allele Identifier: CA913198
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226067
ClinVar RCV Id: RCV000211533
dbSNP Id: rs780510026

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749465T>G , CM000663.2:g.75749465T>G GRCh38
NC_000001.10:g.76215150T>G , CM000663.1:g.76215150T>G GRCh37
NC_000001.9:g.75987738T>G NCBI36
NG_007045.2:g.30108T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.755T>G MANE Select ENSP00000359878.5:p.Phe252Cys
ENST00000473018.3:n.2879T>G
ENST00000532207.6:n.1644T>G
ENST00000541113.6:c.755T>G ENSP00000442324.2:p.Phe252Cys
ENST00000679509.1:n.1717T>G
ENST00000679530.1:c.*523T>G ENSP00000506454.1:p.=
ENST00000679615.1:n.2770T>G
ENST00000679687.1:c.317T>G ENSP00000506598.1:p.Phe106Cys
ENST00000679704.1:c.*521T>G ENSP00000505117.1:p.=
ENST00000679709.1:c.*718T>G ENSP00000506623.1:p.=
ENST00000679976.1:c.*339T>G ENSP00000505565.1:p.=
ENST00000680166.1:n.4044T>G
ENST00000680517.1:c.*143T>G ENSP00000505803.1:p.=
ENST00000680582.1:n.1717T>G
ENST00000680613.1:c.*126T>G ENSP00000506114.1:p.=
ENST00000680662.1:c.*669T>G ENSP00000505080.1:p.=
ENST00000680691.1:c.*418T>G ENSP00000506487.1:p.=
ENST00000680694.1:c.*343T>G ENSP00000505658.1:p.=
ENST00000680743.1:c.*422T>G ENSP00000505073.1:p.=
ENST00000680749.1:c.*40T>G ENSP00000505122.1:p.=
ENST00000680798.1:c.*230T>G ENSP00000505670.1:p.=
ENST00000680805.1:c.709-986T>G ENSP00000505447.1:p.=
ENST00000680844.1:c.*539T>G ENSP00000506541.1:p.=
ENST00000680948.1:c.*622T>G ENSP00000505441.1:p.=
ENST00000680964.1:c.755T>G ENSP00000505961.1:p.Phe252Cys
ENST00000681037.1:c.*2239T>G ENSP00000506025.1:p.=
ENST00000681063.1:c.600-986T>G ENSP00000506616.1:p.=
ENST00000681209.1:c.*410T>G ENSP00000505877.1:p.=
ENST00000681278.1:n.1112T>G
ENST00000681289.1:n.4750T>G
ENST00000681361.1:c.*422T>G ENSP00000506679.1:p.=
ENST00000681430.1:c.755T>G ENSP00000506301.1:p.Phe252Cys
ENST00000681446.1:c.*337T>G ENSP00000506244.1:p.=
ENST00000681450.1:c.*426T>G ENSP00000505660.1:p.=
ENST00000681548.1:c.*341T>G ENSP00000505275.1:p.=
ENST00000681616.1:c.*414T>G ENSP00000505111.1:p.=
ENST00000681621.1:c.*339T>G ENSP00000505770.1:p.=
ENST00000681680.1:n.2850T>G
ENST00000681720.1:c.*210T>G ENSP00000505438.1:p.=
ENST00000681730.1:n.977T>G
ENST00000681790.1:c.497T>G ENSP00000505130.1:p.Phe166Cys
ENST00000681837.1:n.1371T>G
ENST00000681913.1:n.2879T>G
ENST00000681916.1:c.*523T>G ENSP00000506477.1:p.=
ENST00000681930.1:n.2879T>G
ENST00000370834.9:c.854T>G ENSP00000359871.5:p.Phe285Cys
ENST00000370841.8:c.755T>G ENSP00000359878.4:p.Phe252Cys
ENST00000420607.6:c.767T>G ENSP00000409612.2:p.Phe256Cys
ENST00000525808.5:c.*341T>G ENSP00000434823.1:p.=
ENST00000526129.5:c.*539T>G ENSP00000434092.1:p.=
ENST00000526196.5:c.*523T>G ENSP00000431953.1:p.=
ENST00000526930.1:n.528T>G
ENST00000529059.5:n.664T>G
ENST00000530953.6:c.*252T>G ENSP00000431372.1:p.=
ENST00000532207.5:n.485T>G
ENST00000532509.5:c.*519T>G ENSP00000432522.1:p.=
ENST00000534334.5:c.*339T>G ENSP00000435584.1:p.=
ENST00000541113.5:c.647T>G ENSP00000442324.1:p.Phe216Cys
NM_000016.5:c.755T>G NP_000007.1:p.Phe252Cys
NM_001127328.2:c.767T>G NP_001120800.1:p.Phe256Cys
NM_001286042.1:c.647T>G NP_001272971.1:p.Phe216Cys
NM_001286043.1:c.854T>G NP_001272972.1:p.Phe285Cys
NM_001286044.1:c.188T>G NP_001272973.1:p.Phe63Cys
NM_000016.6:c.755T>G MANE Select NP_000007.1:p.Phe252Cys
NM_001127328.3:c.767T>G NP_001120800.1:p.Phe256Cys
NM_001286042.2:c.647T>G NP_001272971.1:p.Phe216Cys
NM_001286043.2:c.854T>G NP_001272972.1:p.Phe285Cys
NM_001286044.2:c.188T>G NP_001272973.1:p.Phe63Cys