Canonical Allele Identifier: CA2245697207

Linked Data

dbSNP Id: rs1297505116

Genomic Alleles

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

Transcript Alleles

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