Canonical Allele Identifier: CA497619923
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222243-A-G
MyVariant Identifiers: chr17:g.7125562A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222243A>G , CM000679.2:g.7222243A>G GRCh38
NC_000017.10:g.7125562A>G , CM000679.1:g.7125562A>G GRCh37
NC_000017.9:g.7066286A>G NCBI36
NG_007975.1:g.7410A>G
NG_008391.2:g.2808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.819A>G MANE Select ENSP00000349297.5:p.Gly273=
ENST00000322910.9:c.*774A>G ENSP00000325395.5:n.*774A>G
ENST00000350303.9:c.753A>G ENSP00000344152.5:p.Gly251=
ENST00000356839.9:c.819A>G ENSP00000349297.5:p.Gly273=
ENST00000543245.6:c.888A>G ENSP00000438689.2:p.Gly296=
ENST00000577191.5:n.991A>G
ENST00000581378.5:c.537A>G
ENST00000582379.1:n.203A>G
NM_000018.3:c.819A>G NP_000009.1:p.Gly273=
NM_001033859.2:c.753A>G NP_001029031.1:p.Gly251=
NM_001270447.1:c.888A>G NP_001257376.1:p.Gly296=
NM_001270448.1:c.591A>G NP_001257377.1:p.Gly197=
XM_006721516.2:c.819A>G XP_006721579.2:p.Gly273=
XM_011523829.1:c.819A>G XP_011522131.1:p.Gly273=
XM_011523830.1:c.819A>G XP_011522132.1:p.Gly273=
XR_934021.1:n.926A>G
XR_934022.1:n.926A>G
XR_934023.1:n.926A>G
XM_006721516.3:c.819A>G XP_006721579.2:p.Gly273=
XM_011523829.2:c.819A>G XP_011522131.1:p.Gly273=
XM_011523830.2:c.819A>G XP_011522132.1:p.Gly273=
XM_024450741.1:c.819A>G XP_024306509.1:p.Gly273=
XR_934021.2:n.878A>G
XR_934022.2:n.878A>G
XR_934023.2:n.878A>G
NM_000018.4:c.819A>G MANE Select NP_000009.1:p.Gly273=
NM_001033859.3:c.753A>G NP_001029031.1:p.Gly251=
NM_001270447.2:c.888A>G NP_001257376.1:p.Gly296=
NM_001270448.2:c.591A>G NP_001257377.1:p.Gly197=
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