Canonical Allele Identifier: CA2635778182

Linked Data

gnomAD v4: 17-7219876-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219876C>T , CM000679.2:g.7219876C>T GRCh38
NC_000017.10:g.7123195C>T , CM000679.1:g.7123195C>T GRCh37
NC_000017.9:g.7063919C>T NCBI36
NG_007975.1:g.5043C>T
NG_008391.2:g.5175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-109C>T (ACADVL) ENSP00000325395.5:n.-109C>T
ENST00000350303.9:c.-109C>T (ACADVL) ENSP00000344152.5:n.-109C>T
ENST00000356839.9:c.-109C>T (ACADVL) ENSP00000349297.5:n.-109C>T
ENST00000543245.6:c.132-246C>T (ACADVL) ENSP00000438689.2:n.132-246C>T
ENST00000582356.5:n.17C>T (ACADVL)
ENST00000583312.5:c.-109C>T (ACADVL) ENSP00000467920.1:n.-109C>T
NM_000018.3:c.-109C>T (ACADVL) NP_000009.1:n.-109C>T
NM_001033859.2:c.-109C>T (ACADVL) NP_001029031.1:n.-109C>T
NM_001270447.1:c.132-246C>T (ACADVL) NP_001257376.1:n.132-246C>T
NM_001270448.1:c.-412C>T (ACADVL) NP_001257377.1:n.-412C>T
NM_001365.3:c.-1027G>A (DLG4) NP_001356.1:n.-1027G>A
NM_001321074.1:c.-1027G>A (DLG4) NP_001308003.1:n.-1027G>A
NM_001365.4:c.-1027G>A (DLG4) NP_001356.1:n.-1027G>A
NR_135527.1:n.175G>A (DLG4)
NM_001270447.2:c.132-246C>T (ACADVL) NP_001257376.1:n.132-246C>T