Canonical Allele Identifier: CA397723752
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1274312304

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222241G>A , CM000679.2:g.7222241G>A GRCh38
NC_000017.10:g.7125560G>A , CM000679.1:g.7125560G>A GRCh37
NC_000017.9:g.7066284G>A NCBI36
NG_007975.1:g.7408G>A
NG_008391.2:g.2810C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.817G>A MANE Select ENSP00000349297.5:p.Gly273Arg
ENST00000322910.9:c.*772G>A ENSP00000325395.5:n.*772G>A
ENST00000350303.9:c.751G>A ENSP00000344152.5:p.Gly251Arg
ENST00000356839.9:c.817G>A ENSP00000349297.5:p.Gly273Arg
ENST00000543245.6:c.886G>A ENSP00000438689.2:p.Gly296Arg
ENST00000577191.5:n.989G>A
ENST00000581378.5:c.535G>A
ENST00000582379.1:n.201G>A
NM_000018.3:c.817G>A NP_000009.1:p.Gly273Arg
NM_001033859.2:c.751G>A NP_001029031.1:p.Gly251Arg
NM_001270447.1:c.886G>A NP_001257376.1:p.Gly296Arg
NM_001270448.1:c.589G>A NP_001257377.1:p.Gly197Arg
XM_006721516.2:c.817G>A XP_006721579.2:p.Gly273Arg
XM_011523829.1:c.817G>A XP_011522131.1:p.Gly273Arg
XM_011523830.1:c.817G>A XP_011522132.1:p.Gly273Arg
XR_934021.1:n.924G>A
XR_934022.1:n.924G>A
XR_934023.1:n.924G>A
XM_006721516.3:c.817G>A XP_006721579.2:p.Gly273Arg
XM_011523829.2:c.817G>A XP_011522131.1:p.Gly273Arg
XM_011523830.2:c.817G>A XP_011522132.1:p.Gly273Arg
XM_024450741.1:c.817G>A XP_024306509.1:p.Gly273Arg
XR_934021.2:n.876G>A
XR_934022.2:n.876G>A
XR_934023.2:n.876G>A
NM_000018.4:c.817G>A MANE Select NP_000009.1:p.Gly273Arg
NM_001033859.3:c.751G>A NP_001029031.1:p.Gly251Arg
NM_001270447.2:c.886G>A NP_001257376.1:p.Gly296Arg
NM_001270448.2:c.589G>A NP_001257377.1:p.Gly197Arg