Canonical Allele Identifier: CA397723119
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221601C>G , CM000679.2:g.7221601C>G GRCh38
NC_000017.10:g.7124920C>G , CM000679.1:g.7124920C>G GRCh37
NC_000017.9:g.7065644C>G NCBI36
NG_007975.1:g.6768C>G
NG_008391.2:g.3450G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.541C>G MANE Select ENSP00000349297.5:p.His181Asp
ENST00000322910.9:c.*496C>G ENSP00000325395.5:n.*496C>G
ENST00000350303.9:c.475C>G ENSP00000344152.5:p.His159Asp
ENST00000356839.9:c.541C>G ENSP00000349297.5:p.His181Asp
ENST00000543245.6:c.610C>G ENSP00000438689.2:p.His204Asp
ENST00000577191.5:n.618C>G
ENST00000577433.5:n.749C>G
ENST00000577857.5:n.357C>G
ENST00000579286.5:n.722C>G
ENST00000579886.2:c.379C>G ENSP00000463246.1:p.His127Asp
ENST00000580365.1:n.272C>G
ENST00000581378.5:c.259C>G
ENST00000581562.5:n.525-351C>G
ENST00000582166.1:n.522C>G
ENST00000583312.5:c.541C>G ENSP00000467920.1:p.His181Asp
ENST00000583760.1:n.323C>G
NM_000018.3:c.541C>G NP_000009.1:p.His181Asp
NM_001033859.2:c.475C>G NP_001029031.1:p.His159Asp
NM_001270447.1:c.610C>G NP_001257376.1:p.His204Asp
NM_001270448.1:c.313C>G NP_001257377.1:p.His105Asp
XM_006721516.2:c.541C>G XP_006721579.2:p.His181Asp
XM_011523829.1:c.541C>G XP_011522131.1:p.His181Asp
XM_011523830.1:c.541C>G XP_011522132.1:p.His181Asp
XR_934021.1:n.648C>G
XR_934022.1:n.648C>G
XR_934023.1:n.648C>G
XM_006721516.3:c.541C>G XP_006721579.2:p.His181Asp
XM_011523829.2:c.541C>G XP_011522131.1:p.His181Asp
XM_011523830.2:c.541C>G XP_011522132.1:p.His181Asp
XM_024450741.1:c.541C>G XP_024306509.1:p.His181Asp
XR_934021.2:n.600C>G
XR_934022.2:n.600C>G
XR_934023.2:n.600C>G
NM_000018.4:c.541C>G MANE Select NP_000009.1:p.His181Asp
NM_001033859.3:c.475C>G NP_001029031.1:p.His159Asp
NM_001270447.2:c.610C>G NP_001257376.1:p.His204Asp
NM_001270448.2:c.313C>G NP_001257377.1:p.His105Asp