Canonical Allele Identifier: CA397723887
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125986T>A (hg19) chr17:g.7222667T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222667T>A , CM000679.2:g.7222667T>A GRCh38
NC_000017.10:g.7125986T>A , CM000679.1:g.7125986T>A GRCh37
NC_000017.9:g.7066710T>A NCBI36
NG_007975.1:g.7834T>A
NG_008391.2:g.2384A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879T>A MANE Select ENSP00000349297.5:p.His293Gln
ENST00000322910.9:c.*834T>A ENSP00000325395.5:n.*834T>A
ENST00000350303.9:c.813T>A ENSP00000344152.5:p.His271Gln
ENST00000356839.9:c.879T>A ENSP00000349297.5:p.His293Gln
ENST00000543245.6:c.948T>A ENSP00000438689.2:p.His316Gln
ENST00000578824.5:n.28T>A
ENST00000581378.5:c.597T>A
ENST00000582379.1:n.263T>A
NM_000018.3:c.879T>A NP_000009.1:p.His293Gln
NM_001033859.2:c.813T>A NP_001029031.1:p.His271Gln
NM_001270447.1:c.948T>A NP_001257376.1:p.His316Gln
NM_001270448.1:c.651T>A NP_001257377.1:p.His217Gln
XM_006721516.2:c.879T>A XP_006721579.2:p.His293Gln
XM_011523829.1:c.879T>A XP_011522131.1:p.His293Gln
XM_011523830.1:c.879T>A XP_011522132.1:p.His293Gln
XR_934021.1:n.986T>A
XR_934022.1:n.986T>A
XR_934023.1:n.986T>A
XM_006721516.3:c.879T>A XP_006721579.2:p.His293Gln
XM_011523829.2:c.879T>A XP_011522131.1:p.His293Gln
XM_011523830.2:c.879T>A XP_011522132.1:p.His293Gln
XM_024450741.1:c.879T>A XP_024306509.1:p.His293Gln
XR_934021.2:n.938T>A
XR_934022.2:n.938T>A
XR_934023.2:n.938T>A
NM_000018.4:c.879T>A MANE Select NP_000009.1:p.His293Gln
NM_001033859.3:c.813T>A NP_001029031.1:p.His271Gln
NM_001270447.2:c.948T>A NP_001257376.1:p.His316Gln
NM_001270448.2:c.651T>A NP_001257377.1:p.His217Gln
Search 100 bp 5'
Search 100 bp 3'