Canonical Allele Identifier: CA497620184
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126022A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222703A>G , CM000679.2:g.7222703A>G GRCh38
NC_000017.10:g.7126022A>G , CM000679.1:g.7126022A>G GRCh37
NC_000017.9:g.7066746A>G NCBI36
NG_007975.1:g.7870A>G
NG_008391.2:g.2348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.915A>G MANE Select ENSP00000349297.5:p.Ser305=
ENST00000322910.9:c.*870A>G ENSP00000325395.5:n.*870A>G
ENST00000350303.9:c.849A>G ENSP00000344152.5:p.Ser283=
ENST00000356839.9:c.915A>G ENSP00000349297.5:p.Ser305=
ENST00000543245.6:c.984A>G ENSP00000438689.2:p.Ser328=
ENST00000578824.5:n.64A>G
ENST00000581378.5:c.633A>G
ENST00000582379.1:n.299A>G
NM_000018.3:c.915A>G NP_000009.1:p.Ser305=
NM_001033859.2:c.849A>G NP_001029031.1:p.Ser283=
NM_001270447.1:c.984A>G NP_001257376.1:p.Ser328=
NM_001270448.1:c.687A>G NP_001257377.1:p.Ser229=
XM_006721516.2:c.915A>G XP_006721579.2:p.Ser305=
XM_011523829.1:c.915A>G XP_011522131.1:p.Ser305=
XM_011523830.1:c.915A>G XP_011522132.1:p.Ser305=
XR_934021.1:n.1022A>G
XR_934022.1:n.1022A>G
XR_934023.1:n.1022A>G
XM_006721516.3:c.915A>G XP_006721579.2:p.Ser305=
XM_011523829.2:c.915A>G XP_011522131.1:p.Ser305=
XM_011523830.2:c.915A>G XP_011522132.1:p.Ser305=
XM_024450741.1:c.915A>G XP_024306509.1:p.Ser305=
XR_934021.2:n.974A>G
XR_934022.2:n.974A>G
XR_934023.2:n.974A>G
NM_000018.4:c.915A>G MANE Select NP_000009.1:p.Ser305=
NM_001033859.3:c.849A>G NP_001029031.1:p.Ser283=
NM_001270447.2:c.984A>G NP_001257376.1:p.Ser328=
NM_001270448.2:c.687A>G NP_001257377.1:p.Ser229=
Search 100 bp 5'
Search 100 bp 3'