Canonical Allele Identifier: CA2635778165

Linked Data

gnomAD v4: 17-7219874-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219874G>A , CM000679.2:g.7219874G>A GRCh38
NC_000017.10:g.7123193G>A , CM000679.1:g.7123193G>A GRCh37
NC_000017.9:g.7063917G>A NCBI36
NG_007975.1:g.5041G>A
NG_008391.2:g.5177C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-111G>A (ACADVL) ENSP00000325395.5:n.-111G>A
ENST00000350303.9:c.-111G>A (ACADVL) ENSP00000344152.5:n.-111G>A
ENST00000356839.9:c.-111G>A (ACADVL) ENSP00000349297.5:n.-111G>A
ENST00000543245.6:c.132-248G>A (ACADVL) ENSP00000438689.2:n.132-248G>A
ENST00000582356.5:n.15G>A (ACADVL)
ENST00000583312.5:c.-111G>A (ACADVL) ENSP00000467920.1:n.-111G>A
NM_000018.3:c.-111G>A (ACADVL) NP_000009.1:n.-111G>A
NM_001033859.2:c.-111G>A (ACADVL) NP_001029031.1:n.-111G>A
NM_001270447.1:c.132-248G>A (ACADVL) NP_001257376.1:n.132-248G>A
NM_001270448.1:c.-414G>A (ACADVL) NP_001257377.1:n.-414G>A
NM_001365.3:c.-1025C>T (DLG4) NP_001356.1:n.-1025C>T
NM_001321074.1:c.-1025C>T (DLG4) NP_001308003.1:n.-1025C>T
NM_001365.4:c.-1025C>T (DLG4) NP_001356.1:n.-1025C>T
NR_135527.1:n.177C>T (DLG4)
NM_001270447.2:c.132-248G>A (ACADVL) NP_001257376.1:n.132-248G>A