Canonical Allele Identifier: CA2646246333
Gene: ACADM HGNC NCBI

Linked Data

gnomAD v4: 1-75749305-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749305C>T , CM000663.2:g.75749305C>T GRCh38
NC_000001.10:g.76214990C>T , CM000663.1:g.76214990C>T GRCh37
NC_000001.9:g.75987578C>T NCBI36
NG_007045.2:g.29948C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370841.9:c.709-114C>T MANE Select ENSP00000359878.5:n.709-114C>T
ENST00000473018.3:n.2833-114C>T
ENST00000532207.6:n.1598-114C>T
ENST00000541113.6:c.709-114C>T ENSP00000442324.2:n.709-114C>T
ENST00000679509.1:n.1671-114C>T
ENST00000679530.1:c.*477-114C>T ENSP00000506454.1:n.*477-114C>T
ENST00000679615.1:n.2724-114C>T
ENST00000679687.1:c.271-114C>T ENSP00000506598.1:n.271-114C>T
ENST00000679704.1:c.*475-114C>T ENSP00000505117.1:n.*475-114C>T
ENST00000679709.1:c.*672-114C>T ENSP00000506623.1:n.*672-114C>T
ENST00000679976.1:c.*293-114C>T ENSP00000505565.1:n.*293-114C>T
ENST00000680166.1:n.3998-114C>T
ENST00000680517.1:c.*97-114C>T ENSP00000505803.1:n.*97-114C>T
ENST00000680582.1:n.1671-114C>T
ENST00000680613.1:c.*80-114C>T ENSP00000506114.1:n.*80-114C>T
ENST00000680662.1:c.*623-114C>T ENSP00000505080.1:n.*623-114C>T
ENST00000680691.1:c.*372-114C>T ENSP00000506487.1:n.*372-114C>T
ENST00000680694.1:c.*297-114C>T ENSP00000505658.1:n.*297-114C>T
ENST00000680743.1:c.*376-114C>T ENSP00000505073.1:n.*376-114C>T
ENST00000680749.1:c.600-114C>T ENSP00000505122.1:n.600-114C>T
ENST00000680798.1:c.*184-114C>T ENSP00000505670.1:n.*184-114C>T
ENST00000680805.1:c.709-1146C>T ENSP00000505447.1:n.709-1146C>T
ENST00000680844.1:c.*493-114C>T ENSP00000506541.1:n.*493-114C>T
ENST00000680948.1:c.*576-114C>T ENSP00000505441.1:n.*576-114C>T
ENST00000680964.1:c.709-114C>T ENSP00000505961.1:n.709-114C>T
ENST00000681037.1:c.*2193-114C>T ENSP00000506025.1:n.*2193-114C>T
ENST00000681063.1:c.600-1146C>T ENSP00000506616.1:n.600-1146C>T
ENST00000681209.1:c.*364-114C>T ENSP00000505877.1:n.*364-114C>T
ENST00000681278.1:n.1066-114C>T
ENST00000681289.1:n.4704-114C>T
ENST00000681361.1:c.*376-114C>T ENSP00000506679.1:n.*376-114C>T
ENST00000681430.1:c.709-114C>T ENSP00000506301.1:n.709-114C>T
ENST00000681446.1:c.*291-114C>T ENSP00000506244.1:n.*291-114C>T
ENST00000681450.1:c.*380-114C>T ENSP00000505660.1:n.*380-114C>T
ENST00000681548.1:c.*295-114C>T ENSP00000505275.1:n.*295-114C>T
ENST00000681616.1:c.*368-114C>T ENSP00000505111.1:n.*368-114C>T
ENST00000681621.1:c.*293-114C>T ENSP00000505770.1:n.*293-114C>T
ENST00000681680.1:n.2804-114C>T
ENST00000681720.1:c.*164-114C>T ENSP00000505438.1:n.*164-114C>T
ENST00000681730.1:n.931-114C>T
ENST00000681790.1:c.451-114C>T ENSP00000505130.1:n.451-114C>T
ENST00000681837.1:n.1325-114C>T
ENST00000681913.1:n.2833-114C>T
ENST00000681916.1:c.*477-114C>T ENSP00000506477.1:n.*477-114C>T
ENST00000681930.1:n.2833-114C>T
ENST00000370834.9:c.808-114C>T ENSP00000359871.5:n.808-114C>T
ENST00000370841.8:c.709-114C>T ENSP00000359878.4:n.709-114C>T
ENST00000420607.6:c.721-114C>T ENSP00000409612.2:n.721-114C>T
ENST00000525808.5:c.*295-114C>T ENSP00000434823.1:n.*295-114C>T
ENST00000526129.5:c.*493-114C>T ENSP00000434092.1:n.*493-114C>T
ENST00000526196.5:c.*477-114C>T ENSP00000431953.1:n.*477-114C>T
ENST00000526930.1:n.482-114C>T
ENST00000529059.5:n.618-114C>T
ENST00000530953.6:c.*206-114C>T ENSP00000431372.1:n.*206-114C>T
ENST00000532207.5:n.439-114C>T
ENST00000532509.5:c.*473-114C>T ENSP00000432522.1:n.*473-114C>T
ENST00000534334.5:c.*293-114C>T ENSP00000435584.1:n.*293-114C>T
ENST00000541113.5:c.601-114C>T ENSP00000442324.1:n.601-114C>T
NM_000016.5:c.709-114C>T NP_000007.1:n.709-114C>T
NM_001127328.2:c.721-114C>T NP_001120800.1:n.721-114C>T
NM_001286042.1:c.601-114C>T NP_001272971.1:n.601-114C>T
NM_001286043.1:c.808-114C>T NP_001272972.1:n.808-114C>T
NM_001286044.1:c.142-114C>T NP_001272973.1:n.142-114C>T
NM_000016.6:c.709-114C>T MANE Select NP_000007.1:n.709-114C>T
NM_001127328.3:c.721-114C>T NP_001120800.1:n.721-114C>T
NM_001286042.2:c.601-114C>T NP_001272971.1:n.601-114C>T
NM_001286043.2:c.808-114C>T NP_001272972.1:n.808-114C>T
NM_001286044.2:c.142-114C>T NP_001272973.1:n.142-114C>T