Canonical Allele Identifier: CA435595008

Gene: ACAD9

Linked Data

• dbSNP Id: rs1936038822
• gnomAD v4: 3-128909376-C-T
• MyVariant Identifiers: chr3:g.128628219C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909376C>T , CM000665.2:g.128909376C>T	GRCh38
NC_000003.11:g.128628219C>T , CM000665.1:g.128628219C>T	GRCh37
NC_000003.10:g.130110909C>T	NCBI36
NG_017064.1:g.34887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1518C>T MANE Select	ENSP00000312618.7:p.Tyr506=
ENST00000511325.2:n.1596C>T
ENST00000679399.1:c.*1689C>T	ENSP00000505434.1:n.*1689C>T
ENST00000679431.1:c.*1394C>T	ENSP00000506440.1:n.*1394C>T
ENST00000679613.1:c.1518C>T	ENSP00000504971.1:p.Tyr506=
ENST00000679715.1:c.1149C>T	ENSP00000506228.1:p.Tyr383=
ENST00000679824.1:c.*2824C>T	ENSP00000505516.1:n.*2824C>T
ENST00000679990.1:n.1753C>T
ENST00000680636.1:c.1518C>T	ENSP00000504886.1:p.Tyr506=
ENST00000680638.1:n.1271C>T
ENST00000680744.1:c.*871C>T	ENSP00000505243.1:n.*871C>T
ENST00000680764.1:c.*2922C>T	ENSP00000505126.1:n.*2922C>T
ENST00000681319.1:n.2304C>T
ENST00000681367.1:c.1518C>T	ENSP00000505309.1:p.Tyr506=
ENST00000681552.1:c.1150-3131C>T	ENSP00000505699.1:n.1150-3131C>T
ENST00000681583.1:c.1518C>T	ENSP00000506340.1:p.Tyr506=
ENST00000681585.1:c.*137C>T	ENSP00000506316.1:n.*137C>T
ENST00000681784.1:n.1596C>T
ENST00000681886.1:c.*711C>T	ENSP00000506500.1:n.*711C>T
ENST00000308982.11:c.1518C>T	ENSP00000312618.7:p.Tyr506=
ENST00000505867.5:c.*1318C>T	ENSP00000425346.1:n.*1318C>T
ENST00000508971.1:c.807C>T	ENSP00000422683.1:p.Tyr269=
ENST00000511227.5:c.*1412C>T	ENSP00000425226.1:n.*1412C>T
ENST00000511325.1:n.499C>T
ENST00000511526.5:n.1051C>T
NM_014049.4:c.1518C>T	NP_054768.2:p.Tyr506=
NR_033426.1:n.1896C>T
XM_011512742.1:c.1149C>T	XP_011511044.1:p.Tyr383=
XM_024453484.1:c.1149C>T	XP_024309252.1:p.Tyr383=
XM_024453485.1:c.1149C>T	XP_024309253.1:p.Tyr383=
XR_427367.3:n.1594C>T
NM_014049.5:c.1518C>T MANE Select	NP_054768.2:p.Tyr506=
NR_033426.2:n.1766C>T