Canonical Allele Identifier: CA435591408
Gene: ACAD9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.128621446G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128902603G>C , CM000665.2:g.128902603G>C GRCh38
NC_000003.11:g.128621446G>C , CM000665.1:g.128621446G>C GRCh37
NC_000003.10:g.130104136G>C NCBI36
NG_017064.1:g.28114G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308982.12:c.933G>C MANE Select ENSP00000312618.7:p.Val311=
ENST00000511325.2:n.1011G>C
ENST00000679399.1:c.*827G>C ENSP00000505434.1:n.*827G>C
ENST00000679431.1:c.*805G>C ENSP00000506440.1:n.*805G>C
ENST00000679613.1:c.933G>C ENSP00000504971.1:p.Val311=
ENST00000679715.1:c.564G>C ENSP00000506228.1:p.Val188=
ENST00000679824.1:c.*2239G>C ENSP00000505516.1:n.*2239G>C
ENST00000679990.1:n.1168G>C
ENST00000680636.1:c.933G>C ENSP00000504886.1:p.Val311=
ENST00000680744.1:c.*286G>C ENSP00000505243.1:n.*286G>C
ENST00000680764.1:c.*2333G>C ENSP00000505126.1:n.*2333G>C
ENST00000681319.1:n.1011G>C
ENST00000681367.1:c.933G>C ENSP00000505309.1:p.Val311=
ENST00000681552.1:c.933G>C ENSP00000505699.1:p.Val311=
ENST00000681583.1:c.933G>C ENSP00000506340.1:p.Val311=
ENST00000681585.1:c.933G>C ENSP00000506316.1:p.Val311=
ENST00000681589.1:n.1147G>C
ENST00000681784.1:n.1011G>C
ENST00000681886.1:c.*126G>C ENSP00000506500.1:n.*126G>C
ENST00000308982.11:c.933G>C ENSP00000312618.7:p.Val311=
ENST00000505192.5:c.*629G>C ENSP00000426277.1:n.*629G>C
ENST00000505867.5:c.*733G>C ENSP00000425346.1:n.*733G>C
ENST00000508971.1:c.222G>C ENSP00000422683.1:p.Val74=
ENST00000511227.5:c.*827G>C ENSP00000425226.1:n.*827G>C
ENST00000511526.5:n.434G>C
NM_014049.4:c.933G>C NP_054768.2:p.Val311=
NR_033426.1:n.1311G>C
XM_011512742.1:c.564G>C XP_011511044.1:p.Val188=
XR_427367.1:n.1005G>C
XM_024453484.1:c.564G>C XP_024309252.1:p.Val188=
XM_024453485.1:c.564G>C XP_024309253.1:p.Val188=
XR_427367.3:n.1005G>C
NM_014049.5:c.933G>C MANE Select NP_054768.2:p.Val311=
NR_033426.2:n.1181G>C