Canonical Allele Identifier: CA354435549

Gene: ACAD9

Linked Data

• MyVariant Identifiers: chr3:g.128621461G>C (hg19) ; chr3:g.128902618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128902618G>C , CM000665.2:g.128902618G>C	GRCh38
NC_000003.11:g.128621461G>C , CM000665.1:g.128621461G>C	GRCh37
NC_000003.10:g.130104151G>C	NCBI36
NG_017064.1:g.28129G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.948G>C MANE Select	ENSP00000312618.7:p.Lys316Asn
ENST00000511325.2:n.1026G>C
ENST00000679399.1:c.*842G>C	ENSP00000505434.1:n.*842G>C
ENST00000679431.1:c.*820G>C	ENSP00000506440.1:n.*820G>C
ENST00000679613.1:c.948G>C	ENSP00000504971.1:p.Lys316Asn
ENST00000679715.1:c.579G>C	ENSP00000506228.1:p.Lys193Asn
ENST00000679824.1:c.*2254G>C	ENSP00000505516.1:n.*2254G>C
ENST00000679990.1:n.1183G>C
ENST00000680636.1:c.948G>C	ENSP00000504886.1:p.Lys316Asn
ENST00000680744.1:c.*301G>C	ENSP00000505243.1:n.*301G>C
ENST00000680764.1:c.*2348G>C	ENSP00000505126.1:n.*2348G>C
ENST00000681319.1:n.1026G>C
ENST00000681367.1:c.948G>C	ENSP00000505309.1:p.Lys316Asn
ENST00000681552.1:c.948G>C	ENSP00000505699.1:p.Lys316Asn
ENST00000681583.1:c.948G>C	ENSP00000506340.1:p.Lys316Asn
ENST00000681585.1:c.948G>C	ENSP00000506316.1:p.Lys316Asn
ENST00000681589.1:n.1162G>C
ENST00000681784.1:n.1026G>C
ENST00000681886.1:c.*141G>C	ENSP00000506500.1:n.*141G>C
ENST00000308982.11:c.948G>C	ENSP00000312618.7:p.Lys316Asn
ENST00000505192.5:c.*644G>C	ENSP00000426277.1:n.*644G>C
ENST00000505867.5:c.*748G>C	ENSP00000425346.1:n.*748G>C
ENST00000508971.1:c.237G>C	ENSP00000422683.1:p.Lys79Asn
ENST00000511227.5:c.*842G>C	ENSP00000425226.1:n.*842G>C
ENST00000511526.5:n.449G>C
NM_014049.4:c.948G>C	NP_054768.2:p.Lys316Asn
NR_033426.1:n.1326G>C
XM_011512742.1:c.579G>C	XP_011511044.1:p.Lys193Asn
XR_427367.1:n.1020G>C
XM_024453484.1:c.579G>C	XP_024309252.1:p.Lys193Asn
XM_024453485.1:c.579G>C	XP_024309253.1:p.Lys193Asn
XR_427367.3:n.1020G>C
NM_014049.5:c.948G>C MANE Select	NP_054768.2:p.Lys316Asn
NR_033426.2:n.1196G>C