Canonical Allele Identifier: CA397724011
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2098123
ClinVar RCV Id: RCV003006520
gnomAD v4: 17-7222725-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222725G>C , CM000679.2:g.7222725G>C GRCh38
NC_000017.10:g.7126044G>C , CM000679.1:g.7126044G>C GRCh37
NC_000017.9:g.7066768G>C NCBI36
NG_007975.1:g.7892G>C
NG_008391.2:g.2326C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.937G>C MANE Select ENSP00000349297.5:p.Asp313His
ENST00000322910.9:c.*892G>C ENSP00000325395.5:n.*892G>C
ENST00000350303.9:c.871G>C ENSP00000344152.5:p.Asp291His
ENST00000356839.9:c.937G>C ENSP00000349297.5:p.Asp313His
ENST00000543245.6:c.1006G>C ENSP00000438689.2:p.Asp336His
ENST00000578824.5:n.86G>C
ENST00000581378.5:c.655G>C
ENST00000582379.1:n.321G>C
NM_000018.3:c.937G>C NP_000009.1:p.Asp313His
NM_001033859.2:c.871G>C NP_001029031.1:p.Asp291His
NM_001270447.1:c.1006G>C NP_001257376.1:p.Asp336His
NM_001270448.1:c.709G>C NP_001257377.1:p.Asp237His
XM_006721516.2:c.937G>C XP_006721579.2:p.Asp313His
XM_011523829.1:c.937G>C XP_011522131.1:p.Asp313His
XM_011523830.1:c.937G>C XP_011522132.1:p.Asp313His
XR_934021.1:n.1044G>C
XR_934022.1:n.1044G>C
XR_934023.1:n.1044G>C
XM_006721516.3:c.937G>C XP_006721579.2:p.Asp313His
XM_011523829.2:c.937G>C XP_011522131.1:p.Asp313His
XM_011523830.2:c.937G>C XP_011522132.1:p.Asp313His
XM_024450741.1:c.937G>C XP_024306509.1:p.Asp313His
XR_934021.2:n.996G>C
XR_934022.2:n.996G>C
XR_934023.2:n.996G>C
NM_000018.4:c.937G>C MANE Select NP_000009.1:p.Asp313His
NM_001033859.3:c.871G>C NP_001029031.1:p.Asp291His
NM_001270447.2:c.1006G>C NP_001257376.1:p.Asp336His
NM_001270448.2:c.709G>C NP_001257377.1:p.Asp237His