Canonical Allele Identifier: CA2635782801
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222593-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222593A>T , CM000679.2:g.7222593A>T GRCh38
NC_000017.10:g.7125912A>T , CM000679.1:g.7125912A>T GRCh37
NC_000017.9:g.7066636A>T NCBI36
NG_007975.1:g.7760A>T
NG_008391.2:g.2458T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-74A>T MANE Select ENSP00000349297.5:n.879-74A>T
ENST00000322910.9:c.*834-74A>T ENSP00000325395.5:n.*834-74A>T
ENST00000350303.9:c.813-74A>T ENSP00000344152.5:n.813-74A>T
ENST00000356839.9:c.879-74A>T ENSP00000349297.5:n.879-74A>T
ENST00000543245.6:c.948-74A>T ENSP00000438689.2:n.948-74A>T
ENST00000581378.5:c.597-74A>T
ENST00000582379.1:n.263-74A>T
NM_000018.3:c.879-74A>T NP_000009.1:n.879-74A>T
NM_001033859.2:c.813-74A>T NP_001029031.1:n.813-74A>T
NM_001270447.1:c.948-74A>T NP_001257376.1:n.948-74A>T
NM_001270448.1:c.651-74A>T NP_001257377.1:n.651-74A>T
XM_006721516.2:c.879-74A>T XP_006721579.2:n.879-74A>T
XM_011523829.1:c.879-74A>T XP_011522131.1:n.879-74A>T
XM_011523830.1:c.879-74A>T XP_011522132.1:n.879-74A>T
XR_934021.1:n.986-74A>T
XR_934022.1:n.986-74A>T
XR_934023.1:n.986-74A>T
XM_006721516.3:c.879-74A>T XP_006721579.2:n.879-74A>T
XM_011523829.2:c.879-74A>T XP_011522131.1:n.879-74A>T
XM_011523830.2:c.879-74A>T XP_011522132.1:n.879-74A>T
XM_024450741.1:c.879-74A>T XP_024306509.1:n.879-74A>T
XR_934021.2:n.938-74A>T
XR_934022.2:n.938-74A>T
XR_934023.2:n.938-74A>T
NM_000018.4:c.879-74A>T MANE Select NP_000009.1:n.879-74A>T
NM_001033859.3:c.813-74A>T NP_001029031.1:n.813-74A>T
NM_001270447.2:c.948-74A>T NP_001257376.1:n.948-74A>T
NM_001270448.2:c.651-74A>T NP_001257377.1:n.651-74A>T
Search 100 bp 5'
Search 100 bp 3'