Canonical Allele Identifier: CA2635782577
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222503-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222503C>G , CM000679.2:g.7222503C>G GRCh38
NC_000017.10:g.7125822C>G , CM000679.1:g.7125822C>G GRCh37
NC_000017.9:g.7066546C>G NCBI36
NG_007975.1:g.7670C>G
NG_008391.2:g.2548G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-164C>G MANE Select ENSP00000349297.5:n.879-164C>G
ENST00000322910.9:c.*834-164C>G ENSP00000325395.5:n.*834-164C>G
ENST00000350303.9:c.813-164C>G ENSP00000344152.5:n.813-164C>G
ENST00000356839.9:c.879-164C>G ENSP00000349297.5:n.879-164C>G
ENST00000543245.6:c.948-164C>G ENSP00000438689.2:n.948-164C>G
ENST00000581378.5:c.597-164C>G
ENST00000582379.1:n.263-164C>G
NM_000018.3:c.879-164C>G NP_000009.1:n.879-164C>G
NM_001033859.2:c.813-164C>G NP_001029031.1:n.813-164C>G
NM_001270447.1:c.948-164C>G NP_001257376.1:n.948-164C>G
NM_001270448.1:c.651-164C>G NP_001257377.1:n.651-164C>G
XM_006721516.2:c.879-164C>G XP_006721579.2:n.879-164C>G
XM_011523829.1:c.879-164C>G XP_011522131.1:n.879-164C>G
XM_011523830.1:c.879-164C>G XP_011522132.1:n.879-164C>G
XR_934021.1:n.986-164C>G
XR_934022.1:n.986-164C>G
XR_934023.1:n.986-164C>G
XM_006721516.3:c.879-164C>G XP_006721579.2:n.879-164C>G
XM_011523829.2:c.879-164C>G XP_011522131.1:n.879-164C>G
XM_011523830.2:c.879-164C>G XP_011522132.1:n.879-164C>G
XM_024450741.1:c.879-164C>G XP_024306509.1:n.879-164C>G
XR_934021.2:n.938-164C>G
XR_934022.2:n.938-164C>G
XR_934023.2:n.938-164C>G
NM_000018.4:c.879-164C>G MANE Select NP_000009.1:n.879-164C>G
NM_001033859.3:c.813-164C>G NP_001029031.1:n.813-164C>G
NM_001270447.2:c.948-164C>G NP_001257376.1:n.948-164C>G
NM_001270448.2:c.651-164C>G NP_001257377.1:n.651-164C>G
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