Canonical Allele Identifier: CA287436325
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs924345938
gnomAD v3: 17-7221583-G-A
gnomAD v4: 17-7221583-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221583G>A , CM000679.2:g.7221583G>A GRCh38
NC_000017.10:g.7124902G>A , CM000679.1:g.7124902G>A GRCh37
NC_000017.9:g.7065626G>A NCBI36
NG_007975.1:g.6750G>A
NG_008391.2:g.3468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.523G>A MANE Select ENSP00000349297.5:p.Gly175Ser
ENST00000322910.9:c.*478G>A ENSP00000325395.5:n.*478G>A
ENST00000350303.9:c.457G>A ENSP00000344152.5:p.Gly153Ser
ENST00000356839.9:c.523G>A ENSP00000349297.5:p.Gly175Ser
ENST00000543245.6:c.592G>A ENSP00000438689.2:p.Gly198Ser
ENST00000577191.5:n.600G>A
ENST00000577433.5:n.731G>A
ENST00000577857.5:n.339G>A
ENST00000579286.5:n.704G>A
ENST00000579886.2:c.361G>A ENSP00000463246.1:p.Gly121Ser
ENST00000580365.1:n.254G>A
ENST00000581378.5:c.241G>A
ENST00000581562.5:n.525-369G>A
ENST00000582166.1:n.504G>A
ENST00000583312.5:c.523G>A ENSP00000467920.1:p.Gly175Ser
ENST00000583760.1:n.305G>A
NM_000018.3:c.523G>A NP_000009.1:p.Gly175Ser
NM_001033859.2:c.457G>A NP_001029031.1:p.Gly153Ser
NM_001270447.1:c.592G>A NP_001257376.1:p.Gly198Ser
NM_001270448.1:c.295G>A NP_001257377.1:p.Gly99Ser
XM_006721516.2:c.523G>A XP_006721579.2:p.Gly175Ser
XM_011523829.1:c.523G>A XP_011522131.1:p.Gly175Ser
XM_011523830.1:c.523G>A XP_011522132.1:p.Gly175Ser
XR_934021.1:n.630G>A
XR_934022.1:n.630G>A
XR_934023.1:n.630G>A
XM_006721516.3:c.523G>A XP_006721579.2:p.Gly175Ser
XM_011523829.2:c.523G>A XP_011522131.1:p.Gly175Ser
XM_011523830.2:c.523G>A XP_011522132.1:p.Gly175Ser
XM_024450741.1:c.523G>A XP_024306509.1:p.Gly175Ser
XR_934021.2:n.582G>A
XR_934022.2:n.582G>A
XR_934023.2:n.582G>A
NM_000018.4:c.523G>A MANE Select NP_000009.1:p.Gly175Ser
NM_001033859.3:c.457G>A NP_001029031.1:p.Gly153Ser
NM_001270447.2:c.592G>A NP_001257376.1:p.Gly198Ser
NM_001270448.2:c.295G>A NP_001257377.1:p.Gly99Ser