Canonical Allele Identifier: CA2635777793

Linked Data

gnomAD v4: 17-7219709-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219709T>C , CM000679.2:g.7219709T>C GRCh38
NC_000017.10:g.7123028T>C , CM000679.1:g.7123028T>C GRCh37
NC_000017.9:g.7063752T>C NCBI36
NG_007975.1:g.4876T>C
NG_008391.2:g.5342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-860A>G (DLG4) ENSP00000382428.3:n.-860A>G
ENST00000491753.2:c.-860A>G (DLG4) ENSP00000467897.2:n.-860A>G
ENST00000648172.8:c.-860A>G (DLG4) ENSP00000497806.3:n.-860A>G
ENST00000543245.6:c.132-413T>C (ACADVL) ENSP00000438689.2:n.132-413T>C
NM_001270447.1:c.132-413T>C (ACADVL) NP_001257376.1:n.132-413T>C
NM_001365.3:c.-860A>G (DLG4) NP_001356.1:n.-860A>G
XM_005256489.2:c.-860A>G (DLG4) XP_005256546.1:n.-860A>G
XM_011523698.1:c.-860A>G (DLG4) XP_011522000.1:n.-860A>G
XM_011523699.1:c.-130A>G (DLG4) XP_011522001.1:n.-130A>G
XR_243545.2:n.140A>G (DLG4)
XR_934005.1:n.140A>G (DLG4)
NM_001321074.1:c.-860A>G (DLG4) NP_001308003.1:n.-860A>G
NM_001365.4:c.-860A>G (DLG4) NP_001356.1:n.-860A>G
NR_135527.1:n.342A>G (DLG4)
XM_011523699.2:c.-130A>G (DLG4) XP_011522001.1:n.-130A>G
XR_934005.2:n.134A>G (DLG4)
NM_001270447.2:c.132-413T>C (ACADVL) NP_001257376.1:n.132-413T>C