Canonical Allele Identifier: CA397723450
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222008-T-G
MyVariant Identifiers: chr17:g.7125327T>G (hg19) chr17:g.7222008T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222008T>G , CM000679.2:g.7222008T>G GRCh38
NC_000017.10:g.7125327T>G , CM000679.1:g.7125327T>G GRCh37
NC_000017.9:g.7066051T>G NCBI36
NG_007975.1:g.7175T>G
NG_008391.2:g.3043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.679T>G MANE Select ENSP00000349297.5:p.Ser227Ala
ENST00000322910.9:c.*634T>G ENSP00000325395.5:n.*634T>G
ENST00000350303.9:c.613T>G ENSP00000344152.5:p.Ser205Ala
ENST00000356839.9:c.679T>G ENSP00000349297.5:p.Ser227Ala
ENST00000543245.6:c.748T>G ENSP00000438689.2:p.Ser250Ala
ENST00000577191.5:n.756T>G
ENST00000577857.5:n.495T>G
ENST00000579286.5:n.860T>G
ENST00000580365.1:n.410T>G
ENST00000581378.5:c.397T>G
ENST00000582379.1:n.63T>G
ENST00000583760.1:n.461T>G
NM_000018.3:c.679T>G NP_000009.1:p.Ser227Ala
NM_001033859.2:c.613T>G NP_001029031.1:p.Ser205Ala
NM_001270447.1:c.748T>G NP_001257376.1:p.Ser250Ala
NM_001270448.1:c.451T>G NP_001257377.1:p.Ser151Ala
XM_006721516.2:c.679T>G XP_006721579.2:p.Ser227Ala
XM_011523829.1:c.679T>G XP_011522131.1:p.Ser227Ala
XM_011523830.1:c.679T>G XP_011522132.1:p.Ser227Ala
XR_934021.1:n.786T>G
XR_934022.1:n.786T>G
XR_934023.1:n.786T>G
XM_006721516.3:c.679T>G XP_006721579.2:p.Ser227Ala
XM_011523829.2:c.679T>G XP_011522131.1:p.Ser227Ala
XM_011523830.2:c.679T>G XP_011522132.1:p.Ser227Ala
XM_024450741.1:c.679T>G XP_024306509.1:p.Ser227Ala
XR_934021.2:n.738T>G
XR_934022.2:n.738T>G
XR_934023.2:n.738T>G
NM_000018.4:c.679T>G MANE Select NP_000009.1:p.Ser227Ala
NM_001033859.3:c.613T>G NP_001029031.1:p.Ser205Ala
NM_001270447.2:c.748T>G NP_001257376.1:p.Ser250Ala
NM_001270448.2:c.451T>G NP_001257377.1:p.Ser151Ala
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