Canonical Allele Identifier: CA10576226
Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 226068
ClinVar RCV Id: RCV000211454
dbSNP Id: rs875989859
gnomAD v2: 1-76199273-G-A
gnomAD v4: 1-75733588-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75733588G>A , CM000663.2:g.75733588G>A GRCh38
NC_000001.10:g.76199273G>A , CM000663.1:g.76199273G>A GRCh37
NC_000001.9:g.75971861G>A NCBI36
NG_007045.2:g.14231G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370841.9:c.347G>A MANE Select ENSP00000359878.5:p.Cys116Tyr
ENST00000473018.3:n.1309G>A
ENST00000525881.6:n.1309G>A
ENST00000541113.6:c.347G>A ENSP00000442324.2:p.Cys116Tyr
ENST00000679509.1:n.1309G>A
ENST00000679530.1:c.*115G>A ENSP00000506454.1:n.*115G>A
ENST00000679615.1:n.1309G>A
ENST00000679687.1:c.31-6392G>A ENSP00000506598.1:n.31-6392G>A
ENST00000679704.1:c.*153+439G>A ENSP00000505117.1:n.*153+439G>A
ENST00000679709.1:c.*310G>A ENSP00000506623.1:n.*310G>A
ENST00000679804.1:n.207+666G>A
ENST00000679976.1:c.286+666G>A ENSP00000505565.1:n.286+666G>A
ENST00000680166.1:n.2474G>A
ENST00000680517.1:c.286+666G>A ENSP00000505803.1:n.286+666G>A
ENST00000680582.1:n.1309G>A
ENST00000680613.1:c.347G>A ENSP00000506114.1:p.Cys116Tyr
ENST00000680662.1:c.*261G>A ENSP00000505080.1:n.*261G>A
ENST00000680691.1:c.*50+666G>A ENSP00000506487.1:n.*50+666G>A
ENST00000680694.1:c.286+666G>A ENSP00000505658.1:n.286+666G>A
ENST00000680743.1:c.*54+666G>A ENSP00000505073.1:n.*54+666G>A
ENST00000680749.1:c.347G>A ENSP00000505122.1:p.Cys116Tyr
ENST00000680798.1:c.286+666G>A ENSP00000505670.1:n.286+666G>A
ENST00000680805.1:c.347G>A ENSP00000505447.1:p.Cys116Tyr
ENST00000680844.1:c.*131G>A ENSP00000506541.1:n.*131G>A
ENST00000680948.1:c.*214G>A ENSP00000505441.1:n.*214G>A
ENST00000680964.1:c.347G>A ENSP00000505961.1:p.Cys116Tyr
ENST00000681037.1:c.347G>A ENSP00000506025.1:p.Cys116Tyr
ENST00000681063.1:c.347G>A ENSP00000506616.1:p.Cys116Tyr
ENST00000681209.1:c.*111G>A ENSP00000505877.1:n.*111G>A
ENST00000681278.1:n.704G>A
ENST00000681289.1:n.704G>A
ENST00000681361.1:c.*54+666G>A ENSP00000506679.1:n.*54+666G>A
ENST00000681430.1:c.347G>A ENSP00000506301.1:p.Cys116Tyr
ENST00000681446.1:c.286+666G>A ENSP00000506244.1:n.286+666G>A
ENST00000681450.1:c.*54+666G>A ENSP00000505660.1:n.*54+666G>A
ENST00000681548.1:c.*54+666G>A ENSP00000505275.1:n.*54+666G>A
ENST00000681616.1:c.*115G>A ENSP00000505111.1:n.*115G>A
ENST00000681621.1:c.286+666G>A ENSP00000505770.1:n.286+666G>A
ENST00000681680.1:n.1309G>A
ENST00000681720.1:c.*54+666G>A ENSP00000505438.1:n.*54+666G>A
ENST00000681730.1:n.569G>A
ENST00000681790.1:c.89G>A ENSP00000505130.1:p.Cys30Tyr
ENST00000681837.1:n.963G>A
ENST00000681913.1:n.1309G>A
ENST00000681916.1:c.*115G>A ENSP00000506477.1:n.*115G>A
ENST00000681930.1:n.1309G>A
ENST00000370834.9:c.446G>A ENSP00000359871.5:p.Cys149Tyr
ENST00000370841.8:c.347G>A ENSP00000359878.4:p.Cys116Tyr
ENST00000420607.6:c.359G>A ENSP00000409612.2:p.Cys120Tyr
ENST00000525808.5:c.*54+666G>A ENSP00000434823.1:n.*54+666G>A
ENST00000526129.5:c.*131G>A ENSP00000434092.1:n.*131G>A
ENST00000526196.5:c.*115G>A ENSP00000431953.1:n.*115G>A
ENST00000529059.5:n.296+666G>A
ENST00000530953.6:c.118+5100G>A ENSP00000431372.1:n.118+5100G>A
ENST00000532509.5:c.*111G>A ENSP00000432522.1:n.*111G>A
ENST00000534334.5:c.286+666G>A ENSP00000435584.1:n.286+666G>A
ENST00000541113.5:c.239G>A ENSP00000442324.1:p.Cys80Tyr
NM_000016.5:c.347G>A NP_000007.1:p.Cys116Tyr
NM_001127328.2:c.359G>A NP_001120800.1:p.Cys120Tyr
NM_001286042.1:c.239G>A NP_001272971.1:p.Cys80Tyr
NM_001286043.1:c.446G>A NP_001272972.1:p.Cys149Tyr
NM_001286044.1:c.-100+666G>A NP_001272973.1:n.-100+666G>A
NM_000016.6:c.347G>A MANE Select NP_000007.1:p.Cys116Tyr
NM_001127328.3:c.359G>A NP_001120800.1:p.Cys120Tyr
NM_001286042.2:c.239G>A NP_001272971.1:p.Cys80Tyr
NM_001286043.2:c.446G>A NP_001272972.1:p.Cys149Tyr
NM_001286044.2:c.-100+666G>A NP_001272973.1:n.-100+666G>A