Canonical Allele Identifier: CA2635777962

Linked Data

gnomAD v4: 17-7219809-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219809A>G , CM000679.2:g.7219809A>G GRCh38
NC_000017.10:g.7123128A>G , CM000679.1:g.7123128A>G GRCh37
NC_000017.9:g.7063852A>G NCBI36
NG_007975.1:g.4976A>G
NG_008391.2:g.5242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-960T>C (DLG4) ENSP00000382428.3:n.-960T>C
ENST00000648172.8:c.-960T>C (DLG4) ENSP00000497806.3:n.-960T>C
ENST00000356839.9:c.-176A>G (ACADVL) ENSP00000349297.5:n.-176A>G
ENST00000543245.6:c.132-313A>G (ACADVL) ENSP00000438689.2:n.132-313A>G
NM_001270447.1:c.132-313A>G (ACADVL) NP_001257376.1:n.132-313A>G
NM_001365.3:c.-960T>C (DLG4) NP_001356.1:n.-960T>C
XM_005256489.2:c.-960T>C (DLG4) XP_005256546.1:n.-960T>C
XM_011523698.1:c.-960T>C (DLG4) XP_011522000.1:n.-960T>C
XM_011523699.1:c.-230T>C (DLG4) XP_011522001.1:n.-230T>C
XR_243545.2:n.40T>C (DLG4)
XR_934005.1:n.40T>C (DLG4)
NM_001321074.1:c.-960T>C (DLG4) NP_001308003.1:n.-960T>C
NM_001365.4:c.-960T>C (DLG4) NP_001356.1:n.-960T>C
NR_135527.1:n.242T>C (DLG4)
XM_011523699.2:c.-230T>C (DLG4) XP_011522001.1:n.-230T>C
XR_934005.2:n.34T>C (DLG4)
NM_001270447.2:c.132-313A>G (ACADVL) NP_001257376.1:n.132-313A>G