Canonical Allele Identifier: CA340816590
Gene: ACADM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749459T>G , CM000663.2:g.75749459T>G GRCh38
NC_000001.10:g.76215144T>G , CM000663.1:g.76215144T>G GRCh37
NC_000001.9:g.75987732T>G NCBI36
NG_007045.2:g.30102T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.749T>G MANE Select ENSP00000359878.5:p.Ile250Ser
ENST00000473018.3:n.2873T>G
ENST00000532207.6:n.1638T>G
ENST00000541113.6:c.749T>G ENSP00000442324.2:p.Ile250Ser
ENST00000679509.1:n.1711T>G
ENST00000679530.1:c.*517T>G ENSP00000506454.1:n.*517T>G
ENST00000679615.1:n.2764T>G
ENST00000679687.1:c.311T>G ENSP00000506598.1:p.Ile104Ser
ENST00000679704.1:c.*515T>G ENSP00000505117.1:n.*515T>G
ENST00000679709.1:c.*712T>G ENSP00000506623.1:n.*712T>G
ENST00000679976.1:c.*333T>G ENSP00000505565.1:n.*333T>G
ENST00000680166.1:n.4038T>G
ENST00000680517.1:c.*137T>G ENSP00000505803.1:n.*137T>G
ENST00000680582.1:n.1711T>G
ENST00000680613.1:c.*120T>G ENSP00000506114.1:n.*120T>G
ENST00000680662.1:c.*663T>G ENSP00000505080.1:n.*663T>G
ENST00000680691.1:c.*412T>G ENSP00000506487.1:n.*412T>G
ENST00000680694.1:c.*337T>G ENSP00000505658.1:n.*337T>G
ENST00000680743.1:c.*416T>G ENSP00000505073.1:n.*416T>G
ENST00000680749.1:c.*34T>G ENSP00000505122.1:n.*34T>G
ENST00000680798.1:c.*224T>G ENSP00000505670.1:n.*224T>G
ENST00000680805.1:c.709-992T>G ENSP00000505447.1:n.709-992T>G
ENST00000680844.1:c.*533T>G ENSP00000506541.1:n.*533T>G
ENST00000680948.1:c.*616T>G ENSP00000505441.1:n.*616T>G
ENST00000680964.1:c.749T>G ENSP00000505961.1:p.Ile250Ser
ENST00000681037.1:c.*2233T>G ENSP00000506025.1:n.*2233T>G
ENST00000681063.1:c.600-992T>G ENSP00000506616.1:n.600-992T>G
ENST00000681209.1:c.*404T>G ENSP00000505877.1:n.*404T>G
ENST00000681278.1:n.1106T>G
ENST00000681289.1:n.4744T>G
ENST00000681361.1:c.*416T>G ENSP00000506679.1:n.*416T>G
ENST00000681430.1:c.749T>G ENSP00000506301.1:p.Ile250Ser
ENST00000681446.1:c.*331T>G ENSP00000506244.1:n.*331T>G
ENST00000681450.1:c.*420T>G ENSP00000505660.1:n.*420T>G
ENST00000681548.1:c.*335T>G ENSP00000505275.1:n.*335T>G
ENST00000681616.1:c.*408T>G ENSP00000505111.1:n.*408T>G
ENST00000681621.1:c.*333T>G ENSP00000505770.1:n.*333T>G
ENST00000681680.1:n.2844T>G
ENST00000681720.1:c.*204T>G ENSP00000505438.1:n.*204T>G
ENST00000681730.1:n.971T>G
ENST00000681790.1:c.491T>G ENSP00000505130.1:p.Ile164Ser
ENST00000681837.1:n.1365T>G
ENST00000681913.1:n.2873T>G
ENST00000681916.1:c.*517T>G ENSP00000506477.1:n.*517T>G
ENST00000681930.1:n.2873T>G
ENST00000370834.9:c.848T>G ENSP00000359871.5:p.Ile283Ser
ENST00000370841.8:c.749T>G ENSP00000359878.4:p.Ile250Ser
ENST00000420607.6:c.761T>G ENSP00000409612.2:p.Ile254Ser
ENST00000525808.5:c.*335T>G ENSP00000434823.1:n.*335T>G
ENST00000526129.5:c.*533T>G ENSP00000434092.1:n.*533T>G
ENST00000526196.5:c.*517T>G ENSP00000431953.1:n.*517T>G
ENST00000526930.1:n.522T>G
ENST00000529059.5:n.658T>G
ENST00000530953.6:c.*246T>G ENSP00000431372.1:n.*246T>G
ENST00000532207.5:n.479T>G
ENST00000532509.5:c.*513T>G ENSP00000432522.1:n.*513T>G
ENST00000534334.5:c.*333T>G ENSP00000435584.1:n.*333T>G
ENST00000541113.5:c.641T>G ENSP00000442324.1:p.Ile214Ser
NM_000016.5:c.749T>G NP_000007.1:p.Ile250Ser
NM_001127328.2:c.761T>G NP_001120800.1:p.Ile254Ser
NM_001286042.1:c.641T>G NP_001272971.1:p.Ile214Ser
NM_001286043.1:c.848T>G NP_001272972.1:p.Ile283Ser
NM_001286044.1:c.182T>G NP_001272973.1:p.Ile61Ser
NM_000016.6:c.749T>G MANE Select NP_000007.1:p.Ile250Ser
NM_001127328.3:c.761T>G NP_001120800.1:p.Ile254Ser
NM_001286042.2:c.641T>G NP_001272971.1:p.Ile214Ser
NM_001286043.2:c.848T>G NP_001272972.1:p.Ile283Ser
NM_001286044.2:c.182T>G NP_001272973.1:p.Ile61Ser