Canonical Allele Identifier: CA287437524
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs950516454
MyVariant Identifiers: chr17:g.7126023A>G (hg19) chr17:g.7222704A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222704A>G , CM000679.2:g.7222704A>G GRCh38
NC_000017.10:g.7126023A>G , CM000679.1:g.7126023A>G GRCh37
NC_000017.9:g.7066747A>G NCBI36
NG_007975.1:g.7871A>G
NG_008391.2:g.2347T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.916A>G MANE Select ENSP00000349297.5:p.Asn306Asp
ENST00000322910.9:c.*871A>G ENSP00000325395.5:n.*871A>G
ENST00000350303.9:c.850A>G ENSP00000344152.5:p.Asn284Asp
ENST00000356839.9:c.916A>G ENSP00000349297.5:p.Asn306Asp
ENST00000543245.6:c.985A>G ENSP00000438689.2:p.Asn329Asp
ENST00000578824.5:n.65A>G
ENST00000581378.5:c.634A>G
ENST00000582379.1:n.300A>G
NM_000018.3:c.916A>G NP_000009.1:p.Asn306Asp
NM_001033859.2:c.850A>G NP_001029031.1:p.Asn284Asp
NM_001270447.1:c.985A>G NP_001257376.1:p.Asn329Asp
NM_001270448.1:c.688A>G NP_001257377.1:p.Asn230Asp
XM_006721516.2:c.916A>G XP_006721579.2:p.Asn306Asp
XM_011523829.1:c.916A>G XP_011522131.1:p.Asn306Asp
XM_011523830.1:c.916A>G XP_011522132.1:p.Asn306Asp
XR_934021.1:n.1023A>G
XR_934022.1:n.1023A>G
XR_934023.1:n.1023A>G
XM_006721516.3:c.916A>G XP_006721579.2:p.Asn306Asp
XM_011523829.2:c.916A>G XP_011522131.1:p.Asn306Asp
XM_011523830.2:c.916A>G XP_011522132.1:p.Asn306Asp
XM_024450741.1:c.916A>G XP_024306509.1:p.Asn306Asp
XR_934021.2:n.975A>G
XR_934022.2:n.975A>G
XR_934023.2:n.975A>G
NM_000018.4:c.916A>G MANE Select NP_000009.1:p.Asn306Asp
NM_001033859.3:c.850A>G NP_001029031.1:p.Asn284Asp
NM_001270447.2:c.985A>G NP_001257376.1:p.Asn329Asp
NM_001270448.2:c.688A>G NP_001257377.1:p.Asn230Asp
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