Canonical Allele Identifier: CA397723517
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1385214678
gnomAD v2: 17-7125360-G-A
gnomAD v4: 17-7222041-G-A
MyVariant Identifiers: chr17:g.7125360G>A (hg19) chr17:g.7222041G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222041G>A , CM000679.2:g.7222041G>A GRCh38
NC_000017.10:g.7125360G>A , CM000679.1:g.7125360G>A GRCh37
NC_000017.9:g.7066084G>A NCBI36
NG_007975.1:g.7208G>A
NG_008391.2:g.3010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.712G>A MANE Select ENSP00000349297.5:p.Gly238Arg
ENST00000322910.9:c.*667G>A ENSP00000325395.5:n.*667G>A
ENST00000350303.9:c.646G>A ENSP00000344152.5:p.Gly216Arg
ENST00000356839.9:c.712G>A ENSP00000349297.5:p.Gly238Arg
ENST00000543245.6:c.781G>A ENSP00000438689.2:p.Gly261Arg
ENST00000577191.5:n.789G>A
ENST00000577857.5:n.528G>A
ENST00000579286.5:n.893G>A
ENST00000580365.1:n.443G>A
ENST00000581378.5:c.430G>A
ENST00000582379.1:n.96G>A
ENST00000583760.1:n.494G>A
NM_000018.3:c.712G>A NP_000009.1:p.Gly238Arg
NM_001033859.2:c.646G>A NP_001029031.1:p.Gly216Arg
NM_001270447.1:c.781G>A NP_001257376.1:p.Gly261Arg
NM_001270448.1:c.484G>A NP_001257377.1:p.Gly162Arg
XM_006721516.2:c.712G>A XP_006721579.2:p.Gly238Arg
XM_011523829.1:c.712G>A XP_011522131.1:p.Gly238Arg
XM_011523830.1:c.712G>A XP_011522132.1:p.Gly238Arg
XR_934021.1:n.819G>A
XR_934022.1:n.819G>A
XR_934023.1:n.819G>A
XM_006721516.3:c.712G>A XP_006721579.2:p.Gly238Arg
XM_011523829.2:c.712G>A XP_011522131.1:p.Gly238Arg
XM_011523830.2:c.712G>A XP_011522132.1:p.Gly238Arg
XM_024450741.1:c.712G>A XP_024306509.1:p.Gly238Arg
XR_934021.2:n.771G>A
XR_934022.2:n.771G>A
XR_934023.2:n.771G>A
NM_000018.4:c.712G>A MANE Select NP_000009.1:p.Gly238Arg
NM_001033859.3:c.646G>A NP_001029031.1:p.Gly216Arg
NM_001270447.2:c.781G>A NP_001257376.1:p.Gly261Arg
NM_001270448.2:c.484G>A NP_001257377.1:p.Gly162Arg
Search 100 bp 5'
Search 100 bp 3'