Canonical Allele Identifier: CA2601236
Community Standard Title: NM_014049.5(ACAD9):c.634-5C>T
Gene: ACAD9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128899282C>T , CM000665.2:g.128899282C>T GRCh38
NC_000003.11:g.128618125C>T , CM000665.1:g.128618125C>T GRCh37
NC_000003.10:g.130100815C>T NCBI36
NG_017064.1:g.24793C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014049.5:c.634-5C>T MANE Select NP_054768.2:n.634-5C>T
ENST00000308982.12:c.634-5C>T MANE Select ENSP00000312618.7:n.634-5C>T
NM_014049.4:c.634-5C>T NP_054768.2:n.634-5C>T
NR_033426.1:n.1012-5C>T
NR_033426.2:n.882-5C>T
ENST00000308982.11:c.634-5C>T ENSP00000312618.7:n.634-5C>T
ENST00000505192.5:c.*330-5C>T ENSP00000426277.1:n.*330-5C>T
ENST00000505867.5:c.*434-5C>T ENSP00000425346.1:n.*434-5C>T
ENST00000511227.5:c.*528-5C>T ENSP00000425226.1:n.*528-5C>T
ENST00000511325.2:n.712-5C>T
ENST00000511526.5:n.135-5C>T
ENST00000512801.5:c.*330-5C>T ENSP00000427283.1:n.*330-5C>T
ENST00000514643.5:c.*330-5C>T ENSP00000422020.1:n.*330-5C>T
ENST00000679399.1:c.*528-5C>T ENSP00000505434.1:n.*528-5C>T
ENST00000679431.1:c.*506-5C>T ENSP00000506440.1:n.*506-5C>T
ENST00000679613.1:c.634-5C>T ENSP00000504971.1:n.634-5C>T
ENST00000679715.1:c.265-5C>T ENSP00000506228.1:n.265-5C>T
ENST00000679824.1:c.*1940-5C>T ENSP00000505516.1:n.*1940-5C>T
ENST00000679990.1:n.869-5C>T
ENST00000680636.1:c.634-5C>T ENSP00000504886.1:n.634-5C>T
ENST00000680744.1:c.710-5C>T ENSP00000505243.1:n.710-5C>T
ENST00000680764.1:c.*2034-5C>T ENSP00000505126.1:n.*2034-5C>T
ENST00000681319.1:n.712-5C>T
ENST00000681367.1:c.634-5C>T ENSP00000505309.1:n.634-5C>T
ENST00000681552.1:c.634-5C>T ENSP00000505699.1:n.634-5C>T
ENST00000681583.1:c.634-5C>T ENSP00000506340.1:n.634-5C>T
ENST00000681585.1:c.634-5C>T ENSP00000506316.1:n.634-5C>T
ENST00000681589.1:n.848-5C>T
ENST00000681784.1:n.712-5C>T
ENST00000681886.1:c.*1+48C>T ENSP00000506500.1:n.*1+48C>T
XM_011512742.1:c.265-5C>T XP_011511044.1:n.265-5C>T
XM_024453484.1:c.265-5C>T XP_024309252.1:n.265-5C>T
XM_024453485.1:c.265-5C>T XP_024309253.1:n.265-5C>T
XR_427367.1:n.706-5C>T
XR_427367.3:n.706-5C>T