Canonical Allele Identifier: CA354438575

Gene: ACAD9

Linked Data

• gnomAD v4: 3-128909383-G-C
• MyVariant Identifiers: chr3:g.128628226G>C (hg19) ; chr3:g.128909383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909383G>C , CM000665.2:g.128909383G>C	GRCh38
NC_000003.11:g.128628226G>C , CM000665.1:g.128628226G>C	GRCh37
NC_000003.10:g.130110916G>C	NCBI36
NG_017064.1:g.34894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1525G>C MANE Select	ENSP00000312618.7:p.Gly509Arg
ENST00000511325.2:n.1603G>C
ENST00000679399.1:c.*1696G>C	ENSP00000505434.1:n.*1696G>C
ENST00000679431.1:c.*1401G>C	ENSP00000506440.1:n.*1401G>C
ENST00000679613.1:c.1525G>C	ENSP00000504971.1:p.Gly509Arg
ENST00000679715.1:c.1156G>C	ENSP00000506228.1:p.Gly386Arg
ENST00000679824.1:c.*2831G>C	ENSP00000505516.1:n.*2831G>C
ENST00000679990.1:n.1760G>C
ENST00000680636.1:c.1525G>C	ENSP00000504886.1:p.Gly509Arg
ENST00000680638.1:n.1278G>C
ENST00000680744.1:c.*878G>C	ENSP00000505243.1:n.*878G>C
ENST00000680764.1:c.*2929G>C	ENSP00000505126.1:n.*2929G>C
ENST00000681319.1:n.2311G>C
ENST00000681367.1:c.1525G>C	ENSP00000505309.1:p.Gly509Arg
ENST00000681552.1:c.1150-3124G>C	ENSP00000505699.1:n.1150-3124G>C
ENST00000681583.1:c.1525G>C	ENSP00000506340.1:p.Gly509Arg
ENST00000681585.1:c.*144G>C	ENSP00000506316.1:n.*144G>C
ENST00000681784.1:n.1603G>C
ENST00000681886.1:c.*718G>C	ENSP00000506500.1:n.*718G>C
ENST00000308982.11:c.1525G>C	ENSP00000312618.7:p.Gly509Arg
ENST00000505867.5:c.*1325G>C	ENSP00000425346.1:n.*1325G>C
ENST00000508971.1:c.814G>C	ENSP00000422683.1:p.Gly272Arg
ENST00000511227.5:c.*1419G>C	ENSP00000425226.1:n.*1419G>C
ENST00000511325.1:n.506G>C
ENST00000511526.5:n.1058G>C
NM_014049.4:c.1525G>C	NP_054768.2:p.Gly509Arg
NR_033426.1:n.1903G>C
XM_011512742.1:c.1156G>C	XP_011511044.1:p.Gly386Arg
XM_024453484.1:c.1156G>C	XP_024309252.1:p.Gly386Arg
XM_024453485.1:c.1156G>C	XP_024309253.1:p.Gly386Arg
XR_427367.3:n.1601G>C
NM_014049.5:c.1525G>C MANE Select	NP_054768.2:p.Gly509Arg
NR_033426.2:n.1773G>C