Canonical Allele Identifier: CA2635778196

Linked Data

gnomAD v4: 17-7219879-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219879G>T , CM000679.2:g.7219879G>T GRCh38
NC_000017.10:g.7123198G>T , CM000679.1:g.7123198G>T GRCh37
NC_000017.9:g.7063922G>T NCBI36
NG_007975.1:g.5046G>T
NG_008391.2:g.5172C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-106G>T (ACADVL) ENSP00000325395.5:n.-106G>T
ENST00000350303.9:c.-106G>T (ACADVL) ENSP00000344152.5:n.-106G>T
ENST00000356839.9:c.-106G>T (ACADVL) ENSP00000349297.5:n.-106G>T
ENST00000543245.6:c.132-243G>T (ACADVL) ENSP00000438689.2:n.132-243G>T
ENST00000578269.5:n.2G>T (ACADVL)
ENST00000579286.5:n.2G>T (ACADVL)
ENST00000582356.5:n.20G>T (ACADVL)
ENST00000583312.5:c.-106G>T (ACADVL) ENSP00000467920.1:n.-106G>T
NM_000018.3:c.-106G>T (ACADVL) NP_000009.1:n.-106G>T
NM_001033859.2:c.-106G>T (ACADVL) NP_001029031.1:n.-106G>T
NM_001270447.1:c.132-243G>T (ACADVL) NP_001257376.1:n.132-243G>T
NM_001270448.1:c.-409G>T (ACADVL) NP_001257377.1:n.-409G>T
NM_001365.3:c.-1030C>A (DLG4) NP_001356.1:n.-1030C>A
XM_006721516.2:c.-106G>T (ACADVL) XP_006721579.2:n.-106G>T
XM_011523829.1:c.-106G>T (ACADVL) XP_011522131.1:n.-106G>T
XM_011523830.1:c.-106G>T (ACADVL) XP_011522132.1:n.-106G>T
XR_934021.1:n.2G>T (ACADVL)
XR_934022.1:n.2G>T (ACADVL)
XR_934023.1:n.2G>T (ACADVL)
NM_001321074.1:c.-1030C>A (DLG4) NP_001308003.1:n.-1030C>A
NM_001365.4:c.-1030C>A (DLG4) NP_001356.1:n.-1030C>A
NR_135527.1:n.172C>A (DLG4)
NM_001270447.2:c.132-243G>T (ACADVL) NP_001257376.1:n.132-243G>T