Canonical Allele Identifier: CA2635778039

Linked Data

gnomAD v4: 17-7219837-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219837A>G , CM000679.2:g.7219837A>G GRCh38
NC_000017.10:g.7123156A>G , CM000679.1:g.7123156A>G GRCh37
NC_000017.9:g.7063880A>G NCBI36
NG_007975.1:g.5004A>G
NG_008391.2:g.5214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648172.8:c.-988T>C (DLG4) ENSP00000497806.3:n.-988T>C
ENST00000356839.9:c.-148A>G (ACADVL) ENSP00000349297.5:n.-148A>G
ENST00000543245.6:c.132-285A>G (ACADVL) ENSP00000438689.2:n.132-285A>G
NM_000018.3:c.-148A>G (ACADVL) NP_000009.1:n.-148A>G
NM_001033859.2:c.-148A>G (ACADVL) NP_001029031.1:n.-148A>G
NM_001270447.1:c.132-285A>G (ACADVL) NP_001257376.1:n.132-285A>G
NM_001270448.1:c.-451A>G (ACADVL) NP_001257377.1:n.-451A>G
NM_001365.3:c.-988T>C (DLG4) NP_001356.1:n.-988T>C
XM_005256489.2:c.-988T>C (DLG4) XP_005256546.1:n.-988T>C
XM_011523698.1:c.-988T>C (DLG4) XP_011522000.1:n.-988T>C
XR_243545.2:n.12T>C (DLG4)
XR_934005.1:n.12T>C (DLG4)
NM_001321074.1:c.-988T>C (DLG4) NP_001308003.1:n.-988T>C
NM_001365.4:c.-988T>C (DLG4) NP_001356.1:n.-988T>C
NR_135527.1:n.214T>C (DLG4)
XR_934005.2:n.6T>C (DLG4)
NM_001270447.2:c.132-285A>G (ACADVL) NP_001257376.1:n.132-285A>G