Canonical Allele Identifier: CA2739559225

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219887T>G , CM000679.2:g.7219887T>G GRCh38
NC_000017.10:g.7123206T>G , CM000679.1:g.7123206T>G GRCh37
NC_000017.9:g.7063930T>G NCBI36
NG_007975.1:g.5054T>G
NG_008391.2:g.5164A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-98T>G (ACADVL) ENSP00000325395.5:n.-98T>G
ENST00000350303.9:c.-98T>G (ACADVL) ENSP00000344152.5:n.-98T>G
ENST00000356839.9:c.-98T>G (ACADVL) ENSP00000349297.5:n.-98T>G
ENST00000543245.6:c.132-235T>G (ACADVL) ENSP00000438689.2:n.132-235T>G
ENST00000578269.5:n.10T>G (ACADVL)
ENST00000579286.5:n.10T>G (ACADVL)
ENST00000582356.5:n.28T>G (ACADVL)
ENST00000583312.5:c.-98T>G (ACADVL) ENSP00000467920.1:n.-98T>G
NM_000018.3:c.-98T>G (ACADVL) NP_000009.1:n.-98T>G
NM_001033859.2:c.-98T>G (ACADVL) NP_001029031.1:n.-98T>G
NM_001270447.1:c.132-235T>G (ACADVL) NP_001257376.1:n.132-235T>G
NM_001270448.1:c.-401T>G (ACADVL) NP_001257377.1:n.-401T>G
NM_001365.3:c.-1038A>C (DLG4) NP_001356.1:n.-1038A>C
XM_006721516.2:c.-98T>G (ACADVL) XP_006721579.2:n.-98T>G
XM_011523829.1:c.-98T>G (ACADVL) XP_011522131.1:n.-98T>G
XM_011523830.1:c.-98T>G (ACADVL) XP_011522132.1:n.-98T>G
XR_934021.1:n.10T>G (ACADVL)
XR_934022.1:n.10T>G (ACADVL)
XR_934023.1:n.10T>G (ACADVL)
NM_001321074.1:c.-1038A>C (DLG4) NP_001308003.1:n.-1038A>C
NM_001365.4:c.-1038A>C (DLG4) NP_001356.1:n.-1038A>C
NR_135527.1:n.164A>C (DLG4)
NM_001270447.2:c.132-235T>G (ACADVL) NP_001257376.1:n.132-235T>G