Canonical Allele Identifier: CA2635781826
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222121-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222121T>C , CM000679.2:g.7222121T>C GRCh38
NC_000017.10:g.7125440T>C , CM000679.1:g.7125440T>C GRCh37
NC_000017.9:g.7066164T>C NCBI36
NG_007975.1:g.7288T>C
NG_008391.2:g.2930A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.752+40T>C MANE Select ENSP00000349297.5:n.752+40T>C
ENST00000322910.9:c.*707+40T>C ENSP00000325395.5:n.*707+40T>C
ENST00000350303.9:c.686+40T>C ENSP00000344152.5:n.686+40T>C
ENST00000356839.9:c.752+40T>C ENSP00000349297.5:n.752+40T>C
ENST00000543245.6:c.821+40T>C ENSP00000438689.2:n.821+40T>C
ENST00000577191.5:n.869T>C
ENST00000581378.5:c.470+40T>C
ENST00000582379.1:n.136+40T>C
ENST00000583760.1:n.574T>C
NM_000018.3:c.752+40T>C NP_000009.1:n.752+40T>C
NM_001033859.2:c.686+40T>C NP_001029031.1:n.686+40T>C
NM_001270447.1:c.821+40T>C NP_001257376.1:n.821+40T>C
NM_001270448.1:c.524+40T>C NP_001257377.1:n.524+40T>C
XM_006721516.2:c.752+40T>C XP_006721579.2:n.752+40T>C
XM_011523829.1:c.752+40T>C XP_011522131.1:n.752+40T>C
XM_011523830.1:c.752+40T>C XP_011522132.1:n.752+40T>C
XR_934021.1:n.859+40T>C
XR_934022.1:n.859+40T>C
XR_934023.1:n.859+40T>C
XM_006721516.3:c.752+40T>C XP_006721579.2:n.752+40T>C
XM_011523829.2:c.752+40T>C XP_011522131.1:n.752+40T>C
XM_011523830.2:c.752+40T>C XP_011522132.1:n.752+40T>C
XM_024450741.1:c.752+40T>C XP_024306509.1:n.752+40T>C
XR_934021.2:n.811+40T>C
XR_934022.2:n.811+40T>C
XR_934023.2:n.811+40T>C
NM_000018.4:c.752+40T>C MANE Select NP_000009.1:n.752+40T>C
NM_001033859.3:c.686+40T>C NP_001029031.1:n.686+40T>C
NM_001270447.2:c.821+40T>C NP_001257376.1:n.821+40T>C
NM_001270448.2:c.524+40T>C NP_001257377.1:n.524+40T>C
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