Canonical Allele Identifier: CA397724042
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126062T>A (hg19) chr17:g.7222743T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222743T>A , CM000679.2:g.7222743T>A GRCh38
NC_000017.10:g.7126062T>A , CM000679.1:g.7126062T>A GRCh37
NC_000017.9:g.7066786T>A NCBI36
NG_007975.1:g.7910T>A
NG_008391.2:g.2308A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.955T>A MANE Select ENSP00000349297.5:p.Ser319Thr
ENST00000322910.9:c.*910T>A ENSP00000325395.5:n.*910T>A
ENST00000350303.9:c.889T>A ENSP00000344152.5:p.Ser297Thr
ENST00000356839.9:c.955T>A ENSP00000349297.5:p.Ser319Thr
ENST00000543245.6:c.1024T>A ENSP00000438689.2:p.Ser342Thr
ENST00000578824.5:n.104T>A
ENST00000581378.5:c.673T>A
ENST00000582379.1:n.339T>A
NM_000018.3:c.955T>A NP_000009.1:p.Ser319Thr
NM_001033859.2:c.889T>A NP_001029031.1:p.Ser297Thr
NM_001270447.1:c.1024T>A NP_001257376.1:p.Ser342Thr
NM_001270448.1:c.727T>A NP_001257377.1:p.Ser243Thr
XM_006721516.2:c.955T>A XP_006721579.2:p.Ser319Thr
XM_011523829.1:c.955T>A XP_011522131.1:p.Ser319Thr
XM_011523830.1:c.955T>A XP_011522132.1:p.Ser319Thr
XR_934021.1:n.1062T>A
XR_934022.1:n.1062T>A
XR_934023.1:n.1062T>A
XM_006721516.3:c.955T>A XP_006721579.2:p.Ser319Thr
XM_011523829.2:c.955T>A XP_011522131.1:p.Ser319Thr
XM_011523830.2:c.955T>A XP_011522132.1:p.Ser319Thr
XM_024450741.1:c.955T>A XP_024306509.1:p.Ser319Thr
XR_934021.2:n.1014T>A
XR_934022.2:n.1014T>A
XR_934023.2:n.1014T>A
NM_000018.4:c.955T>A MANE Select NP_000009.1:p.Ser319Thr
NM_001033859.3:c.889T>A NP_001029031.1:p.Ser297Thr
NM_001270447.2:c.1024T>A NP_001257376.1:p.Ser342Thr
NM_001270448.2:c.727T>A NP_001257377.1:p.Ser243Thr
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