Canonical Allele Identifier: CA2635780730
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221233-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221233G>A , CM000679.2:g.7221233G>A GRCh38
NC_000017.10:g.7124552G>A , CM000679.1:g.7124552G>A GRCh37
NC_000017.9:g.7065276G>A NCBI36
NG_007975.1:g.6400G>A
NG_008391.2:g.3818C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.477+175G>A MANE Select ENSP00000349297.5:n.477+175G>A
ENST00000322910.9:c.*432+175G>A ENSP00000325395.5:n.*432+175G>A
ENST00000350303.9:c.411+175G>A ENSP00000344152.5:n.411+175G>A
ENST00000356839.9:c.477+175G>A ENSP00000349297.5:n.477+175G>A
ENST00000543245.6:c.546+175G>A ENSP00000438689.2:n.546+175G>A
ENST00000577191.5:n.554+175G>A
ENST00000577433.5:n.685+175G>A
ENST00000577857.5:n.294-305G>A
ENST00000579286.5:n.658+175G>A
ENST00000579886.2:c.315+175G>A ENSP00000463246.1:n.315+175G>A
ENST00000580365.1:n.208+175G>A
ENST00000581378.5:c.176+175G>A
ENST00000581562.5:n.524+175G>A
ENST00000582166.1:n.458+175G>A
ENST00000583312.5:c.477+175G>A ENSP00000467920.1:n.477+175G>A
NM_000018.3:c.477+175G>A NP_000009.1:n.477+175G>A
NM_001033859.2:c.411+175G>A NP_001029031.1:n.411+175G>A
NM_001270447.1:c.546+175G>A NP_001257376.1:n.546+175G>A
NM_001270448.1:c.249+175G>A NP_001257377.1:n.249+175G>A
XM_006721516.2:c.477+175G>A XP_006721579.2:n.477+175G>A
XM_011523829.1:c.477+175G>A XP_011522131.1:n.477+175G>A
XM_011523830.1:c.477+175G>A XP_011522132.1:n.477+175G>A
XR_934021.1:n.584+175G>A
XR_934022.1:n.584+175G>A
XR_934023.1:n.584+175G>A
XM_006721516.3:c.477+175G>A XP_006721579.2:n.477+175G>A
XM_011523829.2:c.477+175G>A XP_011522131.1:n.477+175G>A
XM_011523830.2:c.477+175G>A XP_011522132.1:n.477+175G>A
XM_024450741.1:c.477+175G>A XP_024306509.1:n.477+175G>A
XR_934021.2:n.536+175G>A
XR_934022.2:n.536+175G>A
XR_934023.2:n.536+175G>A
NM_000018.4:c.477+175G>A MANE Select NP_000009.1:n.477+175G>A
NM_001033859.3:c.411+175G>A NP_001029031.1:n.411+175G>A
NM_001270447.2:c.546+175G>A NP_001257376.1:n.546+175G>A
NM_001270448.2:c.249+175G>A NP_001257377.1:n.249+175G>A