Canonical Allele Identifier: CA2739559195

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219847A>T , CM000679.2:g.7219847A>T GRCh38
NC_000017.10:g.7123166A>T , CM000679.1:g.7123166A>T GRCh37
NC_000017.9:g.7063890A>T NCBI36
NG_007975.1:g.5014A>T
NG_008391.2:g.5204T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-138A>T (ACADVL) ENSP00000325395.5:n.-138A>T
ENST00000356839.9:c.-138A>T (ACADVL) ENSP00000349297.5:n.-138A>T
ENST00000543245.6:c.132-275A>T (ACADVL) ENSP00000438689.2:n.132-275A>T
NM_000018.3:c.-138A>T (ACADVL) NP_000009.1:n.-138A>T
NM_001033859.2:c.-138A>T (ACADVL) NP_001029031.1:n.-138A>T
NM_001270447.1:c.132-275A>T (ACADVL) NP_001257376.1:n.132-275A>T
NM_001270448.1:c.-441A>T (ACADVL) NP_001257377.1:n.-441A>T
NM_001365.3:c.-998T>A (DLG4) NP_001356.1:n.-998T>A
XM_005256489.2:c.-998T>A (DLG4) XP_005256546.1:n.-998T>A
XM_011523698.1:c.-998T>A (DLG4) XP_011522000.1:n.-998T>A
XR_243545.2:n.2T>A (DLG4)
XR_934005.1:n.2T>A (DLG4)
NM_001321074.1:c.-998T>A (DLG4) NP_001308003.1:n.-998T>A
NM_001365.4:c.-998T>A (DLG4) NP_001356.1:n.-998T>A
NR_135527.1:n.204T>A (DLG4)
NM_001270447.2:c.132-275A>T (ACADVL) NP_001257376.1:n.132-275A>T