Canonical Allele Identifier: CA2576147964
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222373-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222373C>A , CM000679.2:g.7222373C>A GRCh38
NC_000017.10:g.7125692C>A , CM000679.1:g.7125692C>A GRCh37
NC_000017.9:g.7066416C>A NCBI36
NG_007975.1:g.7540C>A
NG_008391.2:g.2678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+71C>A MANE Select ENSP00000349297.5:n.878+71C>A
ENST00000322910.9:c.*833+71C>A ENSP00000325395.5:n.*833+71C>A
ENST00000350303.9:c.812+71C>A ENSP00000344152.5:n.812+71C>A
ENST00000356839.9:c.878+71C>A ENSP00000349297.5:n.878+71C>A
ENST00000543245.6:c.947+71C>A ENSP00000438689.2:n.947+71C>A
ENST00000577191.5:n.1121C>A
ENST00000581378.5:c.596+71C>A
ENST00000582379.1:n.262+71C>A
NM_000018.3:c.878+71C>A NP_000009.1:n.878+71C>A
NM_001033859.2:c.812+71C>A NP_001029031.1:n.812+71C>A
NM_001270447.1:c.947+71C>A NP_001257376.1:n.947+71C>A
NM_001270448.1:c.650+71C>A NP_001257377.1:n.650+71C>A
XM_006721516.2:c.878+71C>A XP_006721579.2:n.878+71C>A
XM_011523829.1:c.878+71C>A XP_011522131.1:n.878+71C>A
XM_011523830.1:c.878+71C>A XP_011522132.1:n.878+71C>A
XR_934021.1:n.985+71C>A
XR_934022.1:n.985+71C>A
XR_934023.1:n.985+71C>A
XM_006721516.3:c.878+71C>A XP_006721579.2:n.878+71C>A
XM_011523829.2:c.878+71C>A XP_011522131.1:n.878+71C>A
XM_011523830.2:c.878+71C>A XP_011522132.1:n.878+71C>A
XM_024450741.1:c.878+71C>A XP_024306509.1:n.878+71C>A
XR_934021.2:n.937+71C>A
XR_934022.2:n.937+71C>A
XR_934023.2:n.937+71C>A
NM_000018.4:c.878+71C>A MANE Select NP_000009.1:n.878+71C>A
NM_001033859.3:c.812+71C>A NP_001029031.1:n.812+71C>A
NM_001270447.2:c.947+71C>A NP_001257376.1:n.947+71C>A
NM_001270448.2:c.650+71C>A NP_001257377.1:n.650+71C>A
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