Canonical Allele Identifier: CA397724101
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126091T>A (hg19) chr17:g.7222772T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222772T>A , CM000679.2:g.7222772T>A GRCh38
NC_000017.10:g.7126091T>A , CM000679.1:g.7126091T>A GRCh37
NC_000017.9:g.7066815T>A NCBI36
NG_007975.1:g.7939T>A
NG_008391.2:g.2279A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.984T>A MANE Select ENSP00000349297.5:p.Ser328Arg
ENST00000322910.9:c.*939T>A ENSP00000325395.5:n.*939T>A
ENST00000350303.9:c.918T>A ENSP00000344152.5:p.Ser306Arg
ENST00000356839.9:c.984T>A ENSP00000349297.5:p.Ser328Arg
ENST00000543245.6:c.1053T>A ENSP00000438689.2:p.Ser351Arg
ENST00000578824.5:n.133T>A
ENST00000581378.5:c.702T>A
ENST00000582379.1:n.368T>A
ENST00000583858.5:c.13T>A
NM_000018.3:c.984T>A NP_000009.1:p.Ser328Arg
NM_001033859.2:c.918T>A NP_001029031.1:p.Ser306Arg
NM_001270447.1:c.1053T>A NP_001257376.1:p.Ser351Arg
NM_001270448.1:c.756T>A NP_001257377.1:p.Ser252Arg
XM_006721516.2:c.984T>A XP_006721579.2:p.Ser328Arg
XM_011523829.1:c.984T>A XP_011522131.1:p.Ser328Arg
XM_011523830.1:c.984T>A XP_011522132.1:p.Ser328Arg
XR_934021.1:n.1091T>A
XR_934022.1:n.1091T>A
XR_934023.1:n.1091T>A
XM_006721516.3:c.984T>A XP_006721579.2:p.Ser328Arg
XM_011523829.2:c.984T>A XP_011522131.1:p.Ser328Arg
XM_011523830.2:c.984T>A XP_011522132.1:p.Ser328Arg
XM_024450741.1:c.984T>A XP_024306509.1:p.Ser328Arg
XR_934021.2:n.1043T>A
XR_934022.2:n.1043T>A
XR_934023.2:n.1043T>A
NM_000018.4:c.984T>A MANE Select NP_000009.1:p.Ser328Arg
NM_001033859.3:c.918T>A NP_001029031.1:p.Ser306Arg
NM_001270447.2:c.1053T>A NP_001257376.1:p.Ser351Arg
NM_001270448.2:c.756T>A NP_001257377.1:p.Ser252Arg
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