Canonical Allele Identifier: CA397723726
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222229G>C , CM000679.2:g.7222229G>C GRCh38
NC_000017.10:g.7125548G>C , CM000679.1:g.7125548G>C GRCh37
NC_000017.9:g.7066272G>C NCBI36
NG_007975.1:g.7396G>C
NG_008391.2:g.2822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.805G>C MANE Select ENSP00000349297.5:p.Asp269His
ENST00000322910.9:c.*760G>C ENSP00000325395.5:n.*760G>C
ENST00000350303.9:c.739G>C ENSP00000344152.5:p.Asp247His
ENST00000356839.9:c.805G>C ENSP00000349297.5:p.Asp269His
ENST00000543245.6:c.874G>C ENSP00000438689.2:p.Asp292His
ENST00000577191.5:n.977G>C
ENST00000581378.5:c.523G>C
ENST00000582379.1:n.189G>C
NM_000018.3:c.805G>C NP_000009.1:p.Asp269His
NM_001033859.2:c.739G>C NP_001029031.1:p.Asp247His
NM_001270447.1:c.874G>C NP_001257376.1:p.Asp292His
NM_001270448.1:c.577G>C NP_001257377.1:p.Asp193His
XM_006721516.2:c.805G>C XP_006721579.2:p.Asp269His
XM_011523829.1:c.805G>C XP_011522131.1:p.Asp269His
XM_011523830.1:c.805G>C XP_011522132.1:p.Asp269His
XR_934021.1:n.912G>C
XR_934022.1:n.912G>C
XR_934023.1:n.912G>C
XM_006721516.3:c.805G>C XP_006721579.2:p.Asp269His
XM_011523829.2:c.805G>C XP_011522131.1:p.Asp269His
XM_011523830.2:c.805G>C XP_011522132.1:p.Asp269His
XM_024450741.1:c.805G>C XP_024306509.1:p.Asp269His
XR_934021.2:n.864G>C
XR_934022.2:n.864G>C
XR_934023.2:n.864G>C
NM_000018.4:c.805G>C MANE Select NP_000009.1:p.Asp269His
NM_001033859.3:c.739G>C NP_001029031.1:p.Asp247His
NM_001270447.2:c.874G>C NP_001257376.1:p.Asp292His
NM_001270448.2:c.577G>C NP_001257377.1:p.Asp193His