Canonical Allele Identifier: CA2635781844
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222138-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222138C>A , CM000679.2:g.7222138C>A GRCh38
NC_000017.10:g.7125457C>A , CM000679.1:g.7125457C>A GRCh37
NC_000017.9:g.7066181C>A NCBI36
NG_007975.1:g.7305C>A
NG_008391.2:g.2913G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.753-39C>A MANE Select ENSP00000349297.5:n.753-39C>A
ENST00000322910.9:c.*708-39C>A ENSP00000325395.5:n.*708-39C>A
ENST00000350303.9:c.687-39C>A ENSP00000344152.5:n.687-39C>A
ENST00000356839.9:c.753-39C>A ENSP00000349297.5:n.753-39C>A
ENST00000543245.6:c.822-39C>A ENSP00000438689.2:n.822-39C>A
ENST00000577191.5:n.886C>A
ENST00000581378.5:c.471-39C>A
ENST00000582379.1:n.137-39C>A
ENST00000583760.1:n.591C>A
NM_000018.3:c.753-39C>A NP_000009.1:n.753-39C>A
NM_001033859.2:c.687-39C>A NP_001029031.1:n.687-39C>A
NM_001270447.1:c.822-39C>A NP_001257376.1:n.822-39C>A
NM_001270448.1:c.525-39C>A NP_001257377.1:n.525-39C>A
XM_006721516.2:c.753-39C>A XP_006721579.2:n.753-39C>A
XM_011523829.1:c.753-39C>A XP_011522131.1:n.753-39C>A
XM_011523830.1:c.753-39C>A XP_011522132.1:n.753-39C>A
XR_934021.1:n.860-39C>A
XR_934022.1:n.860-39C>A
XR_934023.1:n.860-39C>A
XM_006721516.3:c.753-39C>A XP_006721579.2:n.753-39C>A
XM_011523829.2:c.753-39C>A XP_011522131.1:n.753-39C>A
XM_011523830.2:c.753-39C>A XP_011522132.1:n.753-39C>A
XM_024450741.1:c.753-39C>A XP_024306509.1:n.753-39C>A
XR_934021.2:n.812-39C>A
XR_934022.2:n.812-39C>A
XR_934023.2:n.812-39C>A
NM_000018.4:c.753-39C>A MANE Select NP_000009.1:n.753-39C>A
NM_001033859.3:c.687-39C>A NP_001029031.1:n.687-39C>A
NM_001270447.2:c.822-39C>A NP_001257376.1:n.822-39C>A
NM_001270448.2:c.525-39C>A NP_001257377.1:n.525-39C>A