Canonical Allele Identifier: CA2635782318
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222374-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222374A>G , CM000679.2:g.7222374A>G GRCh38
NC_000017.10:g.7125693A>G , CM000679.1:g.7125693A>G GRCh37
NC_000017.9:g.7066417A>G NCBI36
NG_007975.1:g.7541A>G
NG_008391.2:g.2677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+72A>G MANE Select ENSP00000349297.5:n.878+72A>G
ENST00000322910.9:c.*833+72A>G ENSP00000325395.5:n.*833+72A>G
ENST00000350303.9:c.812+72A>G ENSP00000344152.5:n.812+72A>G
ENST00000356839.9:c.878+72A>G ENSP00000349297.5:n.878+72A>G
ENST00000543245.6:c.947+72A>G ENSP00000438689.2:n.947+72A>G
ENST00000577191.5:n.1122A>G
ENST00000581378.5:c.596+72A>G
ENST00000582379.1:n.262+72A>G
NM_000018.3:c.878+72A>G NP_000009.1:n.878+72A>G
NM_001033859.2:c.812+72A>G NP_001029031.1:n.812+72A>G
NM_001270447.1:c.947+72A>G NP_001257376.1:n.947+72A>G
NM_001270448.1:c.650+72A>G NP_001257377.1:n.650+72A>G
XM_006721516.2:c.878+72A>G XP_006721579.2:n.878+72A>G
XM_011523829.1:c.878+72A>G XP_011522131.1:n.878+72A>G
XM_011523830.1:c.878+72A>G XP_011522132.1:n.878+72A>G
XR_934021.1:n.985+72A>G
XR_934022.1:n.985+72A>G
XR_934023.1:n.985+72A>G
XM_006721516.3:c.878+72A>G XP_006721579.2:n.878+72A>G
XM_011523829.2:c.878+72A>G XP_011522131.1:n.878+72A>G
XM_011523830.2:c.878+72A>G XP_011522132.1:n.878+72A>G
XM_024450741.1:c.878+72A>G XP_024306509.1:n.878+72A>G
XR_934021.2:n.937+72A>G
XR_934022.2:n.937+72A>G
XR_934023.2:n.937+72A>G
NM_000018.4:c.878+72A>G MANE Select NP_000009.1:n.878+72A>G
NM_001033859.3:c.812+72A>G NP_001029031.1:n.812+72A>G
NM_001270447.2:c.947+72A>G NP_001257376.1:n.947+72A>G
NM_001270448.2:c.650+72A>G NP_001257377.1:n.650+72A>G
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