Canonical Allele Identifier: CA774739611

Linked Data

dbSNP Id: rs1409315170
gnomAD v3: 17-7219751-C-A
gnomAD v4: 17-7219751-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219751C>A , CM000679.2:g.7219751C>A GRCh38
NC_000017.10:g.7123070C>A , CM000679.1:g.7123070C>A GRCh37
NC_000017.9:g.7063794C>A NCBI36
NG_007975.1:g.4918C>A
NG_008391.2:g.5300G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-902G>T (DLG4) ENSP00000382428.3:n.-902G>T
ENST00000648172.8:c.-902G>T (DLG4) ENSP00000497806.3:n.-902G>T
ENST00000543245.6:c.132-371C>A (ACADVL) ENSP00000438689.2:n.132-371C>A
NM_001270447.1:c.132-371C>A (ACADVL) NP_001257376.1:n.132-371C>A
NM_001365.3:c.-902G>T (DLG4) NP_001356.1:n.-902G>T
XM_005256489.2:c.-902G>T (DLG4) XP_005256546.1:n.-902G>T
XM_011523698.1:c.-902G>T (DLG4) XP_011522000.1:n.-902G>T
XM_011523699.1:c.-172G>T (DLG4) XP_011522001.1:n.-172G>T
XR_243545.2:n.98G>T (DLG4)
XR_934005.1:n.98G>T (DLG4)
NM_001321074.1:c.-902G>T (DLG4) NP_001308003.1:n.-902G>T
NM_001365.4:c.-902G>T (DLG4) NP_001356.1:n.-902G>T
NR_135527.1:n.300G>T (DLG4)
XM_011523699.2:c.-172G>T (DLG4) XP_011522001.1:n.-172G>T
XR_934005.2:n.92G>T (DLG4)
NM_001270447.2:c.132-371C>A (ACADVL) NP_001257376.1:n.132-371C>A