Canonical Allele Identifier: CA2245714571
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224535A= , CM000679.2:g.7224535A= GRCh38
NC_000017.10:g.7127854A= , CM000679.1:g.7127854A= GRCh37
NC_000017.9:g.7068578A= NCBI36
NG_007975.1:g.9702A=
NG_008391.2:g.516T=
NG_033038.1:g.15010T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1661A= MANE Select ENSP00000349297.5:p.His554=
ENST00000322910.9:c.*1616A= ENSP00000325395.5:n.*1616A=
ENST00000350303.9:c.1595A= ENSP00000344152.5:p.His532=
ENST00000356839.9:c.1661A= ENSP00000349297.5:p.His554=
ENST00000542255.6:c.519A=
ENST00000543245.6:c.1730A= ENSP00000438689.2:p.His577=
ENST00000578319.5:n.242A=
ENST00000578711.1:n.1031A=
ENST00000578809.5:n.233A=
ENST00000579391.1:n.265A=
ENST00000579425.5:n.777A=
ENST00000579546.1:c.396A=
ENST00000582450.1:n.169A=
ENST00000583074.5:n.282A=
ENST00000583848.5:c.47A= ENSP00000466487.1:p.His16=
ENST00000583850.5:n.432A=
ENST00000583858.5:c.592A=
ENST00000585203.6:n.852A=
NM_000018.3:c.1661A= NP_000009.1:p.His554=
NM_001033859.2:c.1595A= NP_001029031.1:p.His532=
NM_001270447.1:c.1730A= NP_001257376.1:p.His577=
NM_001270448.1:c.1433A= NP_001257377.1:p.His478=
XM_006721516.2:c.1661A= XP_006721579.2:p.His554=
XM_011523829.1:c.1559A= XP_011522131.1:p.His520=
XM_011523830.1:c.1559A= XP_011522132.1:p.His520=
XR_934021.1:n.1764A=
XR_934022.1:n.1670A=
XR_934023.1:n.1670A=
XM_006721516.3:c.1661A= XP_006721579.2:p.His554=
XM_011523829.2:c.1559A= XP_011522131.1:p.His520=
XM_011523830.2:c.1559A= XP_011522132.1:p.His520=
XM_024450741.1:c.1649A= XP_024306509.1:p.His550=
XR_934021.2:n.1716A=
XR_934022.2:n.1622A=
XR_934023.2:n.1622A=
NM_000018.4:c.1661A= MANE Select NP_000009.1:p.His554=
NM_001033859.3:c.1595A= NP_001029031.1:p.His532=
NM_001270447.2:c.1730A= NP_001257376.1:p.His577=
NM_001270448.2:c.1433A= NP_001257377.1:p.His478=