Canonical Allele Identifier: CA2635782189
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223580-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223580T>C , CM000679.2:g.7223580T>C GRCh38
NC_000017.10:g.7126899T>C , CM000679.1:g.7126899T>C GRCh37
NC_000017.9:g.7067623T>C NCBI36
NG_007975.1:g.8747T>C
NG_008391.2:g.1471A>G
NG_033038.1:g.15965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183-64T>C MANE Select ENSP00000349297.5:n.1183-64T>C
ENST00000322910.9:c.*1138-64T>C ENSP00000325395.5:n.*1138-64T>C
ENST00000350303.9:c.1117-64T>C ENSP00000344152.5:n.1117-64T>C
ENST00000356839.9:c.1183-64T>C ENSP00000349297.5:n.1183-64T>C
ENST00000542255.6:c.41-64T>C
ENST00000543245.6:c.1252-64T>C ENSP00000438689.2:n.1252-64T>C
ENST00000578579.2:n.290T>C
ENST00000578711.1:n.76T>C
ENST00000578824.5:n.599-64T>C
ENST00000579425.5:n.207-64T>C
ENST00000579546.1:c.20-64T>C
ENST00000583858.5:c.212-64T>C
ENST00000585203.6:n.391-64T>C
NM_000018.3:c.1183-64T>C NP_000009.1:n.1183-64T>C
NM_001033859.2:c.1117-64T>C NP_001029031.1:n.1117-64T>C
NM_001270447.1:c.1252-64T>C NP_001257376.1:n.1252-64T>C
NM_001270448.1:c.955-64T>C NP_001257377.1:n.955-64T>C
XM_006721516.2:c.1183-64T>C XP_006721579.2:n.1183-64T>C
XM_011523829.1:c.1183-64T>C XP_011522131.1:n.1183-64T>C
XM_011523830.1:c.1183-64T>C XP_011522132.1:n.1183-64T>C
XR_934021.1:n.1290-64T>C
XR_934022.1:n.1290-64T>C
XR_934023.1:n.1290-64T>C
XM_006721516.3:c.1183-64T>C XP_006721579.2:n.1183-64T>C
XM_011523829.2:c.1183-64T>C XP_011522131.1:n.1183-64T>C
XM_011523830.2:c.1183-64T>C XP_011522132.1:n.1183-64T>C
XM_024450741.1:c.1183-64T>C XP_024306509.1:n.1183-64T>C
XR_934021.2:n.1242-64T>C
XR_934022.2:n.1242-64T>C
XR_934023.2:n.1242-64T>C
NM_000018.4:c.1183-64T>C MANE Select NP_000009.1:n.1183-64T>C
NM_001033859.3:c.1117-64T>C NP_001029031.1:n.1117-64T>C
NM_001270447.2:c.1252-64T>C NP_001257376.1:n.1252-64T>C
NM_001270448.2:c.955-64T>C NP_001257377.1:n.955-64T>C
Search 100 bp 5'
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