Canonical Allele Identifier: CA2601587

Gene: ACAD9

Linked Data

• dbSNP Id: rs749996336
• ExAC: 3:128628260 G / C
• gnomAD v2: 3-128628260-G-C
• gnomAD v4: 3-128909417-G-C
• MyVariant Identifiers: chr3:g.128628260G>C (hg19) ; chr3:g.128909417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909417G>C , CM000665.2:g.128909417G>C	GRCh38
NC_000003.11:g.128628260G>C , CM000665.1:g.128628260G>C	GRCh37
NC_000003.10:g.130110950G>C	NCBI36
NG_017064.1:g.34928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1559G>C MANE Select	ENSP00000312618.7:p.Gly520Ala
ENST00000511325.2:n.1637G>C
ENST00000679399.1:c.*1730G>C	ENSP00000505434.1:n.*1730G>C
ENST00000679431.1:c.*1435G>C	ENSP00000506440.1:n.*1435G>C
ENST00000679613.1:c.1559G>C	ENSP00000504971.1:p.Gly520Ala
ENST00000679715.1:c.1190G>C	ENSP00000506228.1:p.Gly397Ala
ENST00000679824.1:c.*2865G>C	ENSP00000505516.1:n.*2865G>C
ENST00000679990.1:n.1794G>C
ENST00000680636.1:c.1559G>C	ENSP00000504886.1:p.Gly520Ala
ENST00000680638.1:n.1312G>C
ENST00000680744.1:c.*912G>C	ENSP00000505243.1:n.*912G>C
ENST00000680764.1:c.*2963G>C	ENSP00000505126.1:n.*2963G>C
ENST00000681319.1:n.2345G>C
ENST00000681367.1:c.1559G>C	ENSP00000505309.1:p.Gly520Ala
ENST00000681552.1:c.1150-3090G>C	ENSP00000505699.1:n.1150-3090G>C
ENST00000681583.1:c.1559G>C	ENSP00000506340.1:p.Gly520Ala
ENST00000681585.1:c.*178G>C	ENSP00000506316.1:n.*178G>C
ENST00000681784.1:n.1637G>C
ENST00000681886.1:c.*752G>C	ENSP00000506500.1:n.*752G>C
ENST00000308982.11:c.1559G>C	ENSP00000312618.7:p.Gly520Ala
ENST00000505867.5:c.*1359G>C	ENSP00000425346.1:n.*1359G>C
ENST00000508971.1:c.848G>C	ENSP00000422683.1:p.Gly283Ala
ENST00000511227.5:c.*1453G>C	ENSP00000425226.1:n.*1453G>C
ENST00000511325.1:n.540G>C
ENST00000511526.5:n.1092G>C
NM_014049.4:c.1559G>C	NP_054768.2:p.Gly520Ala
NR_033426.1:n.1937G>C
XM_011512742.1:c.1190G>C	XP_011511044.1:p.Gly397Ala
XM_024453484.1:c.1190G>C	XP_024309252.1:p.Gly397Ala
XM_024453485.1:c.1190G>C	XP_024309253.1:p.Gly397Ala
XR_427367.3:n.1635G>C
NM_014049.5:c.1559G>C MANE Select	NP_054768.2:p.Gly520Ala
NR_033426.2:n.1807G>C