Canonical Allele Identifier: CA2739559206

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219863A>G , CM000679.2:g.7219863A>G GRCh38
NC_000017.10:g.7123182A>G , CM000679.1:g.7123182A>G GRCh37
NC_000017.9:g.7063906A>G NCBI36
NG_007975.1:g.5030A>G
NG_008391.2:g.5188T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-122A>G (ACADVL) ENSP00000325395.5:n.-122A>G
ENST00000350303.9:c.-122A>G (ACADVL) ENSP00000344152.5:n.-122A>G
ENST00000356839.9:c.-122A>G (ACADVL) ENSP00000349297.5:n.-122A>G
ENST00000543245.6:c.132-259A>G (ACADVL) ENSP00000438689.2:n.132-259A>G
ENST00000582356.5:n.4A>G (ACADVL)
ENST00000583312.5:c.-122A>G (ACADVL) ENSP00000467920.1:n.-122A>G
NM_000018.3:c.-122A>G (ACADVL) NP_000009.1:n.-122A>G
NM_001033859.2:c.-122A>G (ACADVL) NP_001029031.1:n.-122A>G
NM_001270447.1:c.132-259A>G (ACADVL) NP_001257376.1:n.132-259A>G
NM_001270448.1:c.-425A>G (ACADVL) NP_001257377.1:n.-425A>G
NM_001365.3:c.-1014T>C (DLG4) NP_001356.1:n.-1014T>C
NM_001321074.1:c.-1014T>C (DLG4) NP_001308003.1:n.-1014T>C
NM_001365.4:c.-1014T>C (DLG4) NP_001356.1:n.-1014T>C
NR_135527.1:n.188T>C (DLG4)
NM_001270447.2:c.132-259A>G (ACADVL) NP_001257376.1:n.132-259A>G