Canonical Allele Identifier: CA397723649
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222193G>C , CM000679.2:g.7222193G>C GRCh38
NC_000017.10:g.7125512G>C , CM000679.1:g.7125512G>C GRCh37
NC_000017.9:g.7066236G>C NCBI36
NG_007975.1:g.7360G>C
NG_008391.2:g.2858C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.769G>C MANE Select ENSP00000349297.5:p.Asp257His
ENST00000322910.9:c.*724G>C ENSP00000325395.5:n.*724G>C
ENST00000350303.9:c.703G>C ENSP00000344152.5:p.Asp235His
ENST00000356839.9:c.769G>C ENSP00000349297.5:p.Asp257His
ENST00000543245.6:c.838G>C ENSP00000438689.2:p.Asp280His
ENST00000577191.5:n.941G>C
ENST00000581378.5:c.487G>C
ENST00000582379.1:n.153G>C
NM_000018.3:c.769G>C NP_000009.1:p.Asp257His
NM_001033859.2:c.703G>C NP_001029031.1:p.Asp235His
NM_001270447.1:c.838G>C NP_001257376.1:p.Asp280His
NM_001270448.1:c.541G>C NP_001257377.1:p.Asp181His
XM_006721516.2:c.769G>C XP_006721579.2:p.Asp257His
XM_011523829.1:c.769G>C XP_011522131.1:p.Asp257His
XM_011523830.1:c.769G>C XP_011522132.1:p.Asp257His
XR_934021.1:n.876G>C
XR_934022.1:n.876G>C
XR_934023.1:n.876G>C
XM_006721516.3:c.769G>C XP_006721579.2:p.Asp257His
XM_011523829.2:c.769G>C XP_011522131.1:p.Asp257His
XM_011523830.2:c.769G>C XP_011522132.1:p.Asp257His
XM_024450741.1:c.769G>C XP_024306509.1:p.Asp257His
XR_934021.2:n.828G>C
XR_934022.2:n.828G>C
XR_934023.2:n.828G>C
NM_000018.4:c.769G>C MANE Select NP_000009.1:p.Asp257His
NM_001033859.3:c.703G>C NP_001029031.1:p.Asp235His
NM_001270447.2:c.838G>C NP_001257376.1:p.Asp280His
NM_001270448.2:c.541G>C NP_001257377.1:p.Asp181His