Canonical Allele Identifier: CA2245697136

Linked Data

dbSNP Id: rs2071090522
gnomAD v4: 17-7219747-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219747C>T , CM000679.2:g.7219747C>T GRCh38
NC_000017.10:g.7123066C>T , CM000679.1:g.7123066C>T GRCh37
NC_000017.9:g.7063790C>T NCBI36
NG_007975.1:g.4914C>T
NG_008391.2:g.5304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-898G>A (DLG4) ENSP00000382428.3:n.-898G>A
ENST00000648172.8:c.-898G>A (DLG4) ENSP00000497806.3:n.-898G>A
ENST00000543245.6:c.132-375C>T (ACADVL) ENSP00000438689.2:n.132-375C>T
NM_001270447.1:c.132-375C>T (ACADVL) NP_001257376.1:n.132-375C>T
NM_001365.3:c.-898G>A (DLG4) NP_001356.1:n.-898G>A
XM_005256489.2:c.-898G>A (DLG4) XP_005256546.1:n.-898G>A
XM_011523698.1:c.-898G>A (DLG4) XP_011522000.1:n.-898G>A
XM_011523699.1:c.-168G>A (DLG4) XP_011522001.1:n.-168G>A
XR_243545.2:n.102G>A (DLG4)
XR_934005.1:n.102G>A (DLG4)
NM_001321074.1:c.-898G>A (DLG4) NP_001308003.1:n.-898G>A
NM_001365.4:c.-898G>A (DLG4) NP_001356.1:n.-898G>A
NR_135527.1:n.304G>A (DLG4)
XM_011523699.2:c.-168G>A (DLG4) XP_011522001.1:n.-168G>A
XR_934005.2:n.96G>A (DLG4)
NM_001270447.2:c.132-375C>T (ACADVL) NP_001257376.1:n.132-375C>T