Canonical Allele Identifier: CA2245712269
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1418285691
gnomAD v4: 17-7223917-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223917T>A , CM000679.2:g.7223917T>A GRCh38
NC_000017.10:g.7127236T>A , CM000679.1:g.7127236T>A GRCh37
NC_000017.9:g.7067960T>A NCBI36
NG_007975.1:g.9084T>A
NG_008391.2:g.1134A>T
NG_033038.1:g.15628A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1332+42T>A MANE Select ENSP00000349297.5:n.1332+42T>A
ENST00000322910.9:c.*1287+42T>A ENSP00000325395.5:n.*1287+42T>A
ENST00000350303.9:c.1266+42T>A ENSP00000344152.5:n.1266+42T>A
ENST00000356839.9:c.1332+42T>A ENSP00000349297.5:n.1332+42T>A
ENST00000542255.6:c.190+42T>A
ENST00000543245.6:c.1401+42T>A ENSP00000438689.2:n.1401+42T>A
ENST00000578711.1:n.413T>A
ENST00000579425.5:n.398T>A
ENST00000579546.1:c.169+42T>A
ENST00000583074.5:n.51+42T>A
ENST00000583850.5:n.107+42T>A
ENST00000583858.5:c.361+42T>A
ENST00000585203.6:n.524-51T>A
NM_000018.3:c.1332+42T>A NP_000009.1:n.1332+42T>A
NM_001033859.2:c.1266+42T>A NP_001029031.1:n.1266+42T>A
NM_001270447.1:c.1401+42T>A NP_001257376.1:n.1401+42T>A
NM_001270448.1:c.1104+42T>A NP_001257377.1:n.1104+42T>A
XM_006721516.2:c.1332+42T>A XP_006721579.2:n.1332+42T>A
XM_011523829.1:c.1332+42T>A XP_011522131.1:n.1332+42T>A
XM_011523830.1:c.1332+42T>A XP_011522132.1:n.1332+42T>A
XR_934021.1:n.1439+42T>A
XR_934022.1:n.1439+42T>A
XR_934023.1:n.1439+42T>A
XM_006721516.3:c.1332+42T>A XP_006721579.2:n.1332+42T>A
XM_011523829.2:c.1332+42T>A XP_011522131.1:n.1332+42T>A
XM_011523830.2:c.1332+42T>A XP_011522132.1:n.1332+42T>A
XM_024450741.1:c.1332+42T>A XP_024306509.1:n.1332+42T>A
XR_934021.2:n.1391+42T>A
XR_934022.2:n.1391+42T>A
XR_934023.2:n.1391+42T>A
NM_000018.4:c.1332+42T>A MANE Select NP_000009.1:n.1332+42T>A
NM_001033859.3:c.1266+42T>A NP_001029031.1:n.1266+42T>A
NM_001270447.2:c.1401+42T>A NP_001257376.1:n.1401+42T>A
NM_001270448.2:c.1104+42T>A NP_001257377.1:n.1104+42T>A