Canonical Allele Identifier: CA774741048
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1186266619
gnomAD v3: 17-7220833-A-G
gnomAD v4: 17-7220833-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220833A>G , CM000679.2:g.7220833A>G GRCh38
NC_000017.10:g.7124152A>G , CM000679.1:g.7124152A>G GRCh37
NC_000017.9:g.7064876A>G NCBI36
NG_007975.1:g.6000A>G
NG_008391.2:g.4218T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.342+3A>G MANE Select ENSP00000349297.5:n.342+3A>G
ENST00000322910.9:c.*297+3A>G ENSP00000325395.5:n.*297+3A>G
ENST00000350303.9:c.276+3A>G ENSP00000344152.5:n.276+3A>G
ENST00000356839.9:c.342+3A>G ENSP00000349297.5:n.342+3A>G
ENST00000543245.6:c.411+3A>G ENSP00000438689.2:n.411+3A>G
ENST00000577191.5:n.419+3A>G
ENST00000577433.5:n.550+3A>G
ENST00000577857.5:n.293+3A>G
ENST00000579286.5:n.523+3A>G
ENST00000579886.2:c.202-112A>G ENSP00000463246.1:n.202-112A>G
ENST00000580365.1:n.73+3A>G
ENST00000581378.5:c.41+3A>G
ENST00000581562.5:n.389+3A>G
ENST00000582056.5:n.435A>G
ENST00000582166.1:n.233A>G
ENST00000582356.5:n.544A>G
ENST00000583312.5:c.342+3A>G ENSP00000467920.1:n.342+3A>G
ENST00000584103.5:c.342+3A>G ENSP00000465353.1:n.342+3A>G
NM_000018.3:c.342+3A>G NP_000009.1:n.342+3A>G
NM_001033859.2:c.276+3A>G NP_001029031.1:n.276+3A>G
NM_001270447.1:c.411+3A>G NP_001257376.1:n.411+3A>G
NM_001270448.1:c.114+3A>G NP_001257377.1:n.114+3A>G
XM_006721516.2:c.342+3A>G XP_006721579.2:n.342+3A>G
XM_011523829.1:c.342+3A>G XP_011522131.1:n.342+3A>G
XM_011523830.1:c.342+3A>G XP_011522132.1:n.342+3A>G
XR_934021.1:n.449+3A>G
XR_934022.1:n.449+3A>G
XR_934023.1:n.449+3A>G
XM_006721516.3:c.342+3A>G XP_006721579.2:n.342+3A>G
XM_011523829.2:c.342+3A>G XP_011522131.1:n.342+3A>G
XM_011523830.2:c.342+3A>G XP_011522132.1:n.342+3A>G
XM_024450741.1:c.342+3A>G XP_024306509.1:n.342+3A>G
XR_934021.2:n.401+3A>G
XR_934022.2:n.401+3A>G
XR_934023.2:n.401+3A>G
NM_000018.4:c.342+3A>G MANE Select NP_000009.1:n.342+3A>G
NM_001033859.3:c.276+3A>G NP_001029031.1:n.276+3A>G
NM_001270447.2:c.411+3A>G NP_001257376.1:n.411+3A>G
NM_001270448.2:c.114+3A>G NP_001257377.1:n.114+3A>G