Canonical Allele Identifier: CA2739559196

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219848T>A , CM000679.2:g.7219848T>A GRCh38
NC_000017.10:g.7123167T>A , CM000679.1:g.7123167T>A GRCh37
NC_000017.9:g.7063891T>A NCBI36
NG_007975.1:g.5015T>A
NG_008391.2:g.5203A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-137T>A (ACADVL) ENSP00000325395.5:n.-137T>A
ENST00000356839.9:c.-137T>A (ACADVL) ENSP00000349297.5:n.-137T>A
ENST00000543245.6:c.132-274T>A (ACADVL) ENSP00000438689.2:n.132-274T>A
NM_000018.3:c.-137T>A (ACADVL) NP_000009.1:n.-137T>A
NM_001033859.2:c.-137T>A (ACADVL) NP_001029031.1:n.-137T>A
NM_001270447.1:c.132-274T>A (ACADVL) NP_001257376.1:n.132-274T>A
NM_001270448.1:c.-440T>A (ACADVL) NP_001257377.1:n.-440T>A
NM_001365.3:c.-999A>T (DLG4) NP_001356.1:n.-999A>T
XM_005256489.2:c.-999A>T (DLG4) XP_005256546.1:n.-999A>T
XM_011523698.1:c.-999A>T (DLG4) XP_011522000.1:n.-999A>T
XR_243545.2:n.1A>T (DLG4)
XR_934005.1:n.1A>T (DLG4)
NM_001321074.1:c.-999A>T (DLG4) NP_001308003.1:n.-999A>T
NM_001365.4:c.-999A>T (DLG4) NP_001356.1:n.-999A>T
NR_135527.1:n.203A>T (DLG4)
NM_001270447.2:c.132-274T>A (ACADVL) NP_001257376.1:n.132-274T>A