Canonical Allele Identifier: CA397723947
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222696-A-C
MyVariant Identifiers: chr17:g.7126015A>C (hg19) chr17:g.7222696A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222696A>C , CM000679.2:g.7222696A>C GRCh38
NC_000017.10:g.7126015A>C , CM000679.1:g.7126015A>C GRCh37
NC_000017.9:g.7066739A>C NCBI36
NG_007975.1:g.7863A>C
NG_008391.2:g.2355T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.908A>C MANE Select ENSP00000349297.5:p.Lys303Thr
ENST00000322910.9:c.*863A>C ENSP00000325395.5:n.*863A>C
ENST00000350303.9:c.842A>C ENSP00000344152.5:p.Lys281Thr
ENST00000356839.9:c.908A>C ENSP00000349297.5:p.Lys303Thr
ENST00000543245.6:c.977A>C ENSP00000438689.2:p.Lys326Thr
ENST00000578824.5:n.57A>C
ENST00000581378.5:c.626A>C
ENST00000582379.1:n.292A>C
NM_000018.3:c.908A>C NP_000009.1:p.Lys303Thr
NM_001033859.2:c.842A>C NP_001029031.1:p.Lys281Thr
NM_001270447.1:c.977A>C NP_001257376.1:p.Lys326Thr
NM_001270448.1:c.680A>C NP_001257377.1:p.Lys227Thr
XM_006721516.2:c.908A>C XP_006721579.2:p.Lys303Thr
XM_011523829.1:c.908A>C XP_011522131.1:p.Lys303Thr
XM_011523830.1:c.908A>C XP_011522132.1:p.Lys303Thr
XR_934021.1:n.1015A>C
XR_934022.1:n.1015A>C
XR_934023.1:n.1015A>C
XM_006721516.3:c.908A>C XP_006721579.2:p.Lys303Thr
XM_011523829.2:c.908A>C XP_011522131.1:p.Lys303Thr
XM_011523830.2:c.908A>C XP_011522132.1:p.Lys303Thr
XM_024450741.1:c.908A>C XP_024306509.1:p.Lys303Thr
XR_934021.2:n.967A>C
XR_934022.2:n.967A>C
XR_934023.2:n.967A>C
NM_000018.4:c.908A>C MANE Select NP_000009.1:p.Lys303Thr
NM_001033859.3:c.842A>C NP_001029031.1:p.Lys281Thr
NM_001270447.2:c.977A>C NP_001257376.1:p.Lys326Thr
NM_001270448.2:c.680A>C NP_001257377.1:p.Lys227Thr
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