Canonical Allele Identifier: CA312265
Gene: ACADVL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203580
dbSNP Id: rs112406105

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223152G>A , CM000679.2:g.7223152G>A GRCh38
NC_000017.9:g.7067195G>A NCBI36
NC_000017.10:g.7126471G>A , CM000679.1:g.7126471G>A GRCh37
NG_007975.1:g.8319G>A
NG_008391.2:g.1899C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000322910.9:c.*1052G>A ENSP00000325395.5:p.=
ENST00000350303.9:c.1031G>A ENSP00000344152.5:p.Arg344His
ENST00000356839.9:c.1097G>A ENSP00000349297.5:p.Arg366His
ENST00000543245.6:c.1166G>A ENSP00000438689.2:p.Arg389His
ENST00000578579.2:n.46G>A
ENST00000578824.5:n.513G>A
ENST00000579425.5:n.121G>A
ENST00000582379.1:n.748G>A
ENST00000583858.5:n.126G>A
ENST00000585203.6:n.305G>A
NM_000018.3:c.1097G>A NP_000009.1:p.Arg366His
NM_001033859.2:c.1031G>A NP_001029031.1:p.Arg344His
NM_001270447.1:c.1166G>A NP_001257376.1:p.Arg389His
NM_001270448.1:c.869G>A NP_001257377.1:p.Arg290His
XM_006721516.2:c.1097G>A XP_006721579.2:p.Arg366His
XM_011523829.1:c.1097G>A XP_011522131.1:p.Arg366His
XM_011523830.1:c.1097G>A XP_011522132.1:p.Arg366His
XR_934021.1:n.1204G>A
XR_934022.1:n.1204G>A
XR_934023.1:n.1204G>A