Canonical Allele Identifier: CA2635777921

Linked Data

gnomAD v4: 17-7219791-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219791A>G , CM000679.2:g.7219791A>G GRCh38
NC_000017.10:g.7123110A>G , CM000679.1:g.7123110A>G GRCh37
NC_000017.9:g.7063834A>G NCBI36
NG_007975.1:g.4958A>G
NG_008391.2:g.5260T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-942T>C (DLG4) ENSP00000382428.3:n.-942T>C
ENST00000648172.8:c.-942T>C (DLG4) ENSP00000497806.3:n.-942T>C
ENST00000543245.6:c.132-331A>G (ACADVL) ENSP00000438689.2:n.132-331A>G
NM_001270447.1:c.132-331A>G (ACADVL) NP_001257376.1:n.132-331A>G
NM_001365.3:c.-942T>C (DLG4) NP_001356.1:n.-942T>C
XM_005256489.2:c.-942T>C (DLG4) XP_005256546.1:n.-942T>C
XM_011523698.1:c.-942T>C (DLG4) XP_011522000.1:n.-942T>C
XM_011523699.1:c.-212T>C (DLG4) XP_011522001.1:n.-212T>C
XR_243545.2:n.58T>C (DLG4)
XR_934005.1:n.58T>C (DLG4)
NM_001321074.1:c.-942T>C (DLG4) NP_001308003.1:n.-942T>C
NM_001365.4:c.-942T>C (DLG4) NP_001356.1:n.-942T>C
NR_135527.1:n.260T>C (DLG4)
XM_011523699.2:c.-212T>C (DLG4) XP_011522001.1:n.-212T>C
XR_934005.2:n.52T>C (DLG4)
NM_001270447.2:c.132-331A>G (ACADVL) NP_001257376.1:n.132-331A>G