Canonical Allele Identifier: CA497619719
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221585-C-G
MyVariant Identifiers: chr17:g.7124904C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221585C>G , CM000679.2:g.7221585C>G GRCh38
NC_000017.10:g.7124904C>G , CM000679.1:g.7124904C>G GRCh37
NC_000017.9:g.7065628C>G NCBI36
NG_007975.1:g.6752C>G
NG_008391.2:g.3466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.525C>G MANE Select ENSP00000349297.5:p.Gly175=
ENST00000322910.9:c.*480C>G ENSP00000325395.5:n.*480C>G
ENST00000350303.9:c.459C>G ENSP00000344152.5:p.Gly153=
ENST00000356839.9:c.525C>G ENSP00000349297.5:p.Gly175=
ENST00000543245.6:c.594C>G ENSP00000438689.2:p.Gly198=
ENST00000577191.5:n.602C>G
ENST00000577433.5:n.733C>G
ENST00000577857.5:n.341C>G
ENST00000579286.5:n.706C>G
ENST00000579886.2:c.363C>G ENSP00000463246.1:p.Gly121=
ENST00000580365.1:n.256C>G
ENST00000581378.5:c.243C>G
ENST00000581562.5:n.525-367C>G
ENST00000582166.1:n.506C>G
ENST00000583312.5:c.525C>G ENSP00000467920.1:p.Gly175=
ENST00000583760.1:n.307C>G
NM_000018.3:c.525C>G NP_000009.1:p.Gly175=
NM_001033859.2:c.459C>G NP_001029031.1:p.Gly153=
NM_001270447.1:c.594C>G NP_001257376.1:p.Gly198=
NM_001270448.1:c.297C>G NP_001257377.1:p.Gly99=
XM_006721516.2:c.525C>G XP_006721579.2:p.Gly175=
XM_011523829.1:c.525C>G XP_011522131.1:p.Gly175=
XM_011523830.1:c.525C>G XP_011522132.1:p.Gly175=
XR_934021.1:n.632C>G
XR_934022.1:n.632C>G
XR_934023.1:n.632C>G
XM_006721516.3:c.525C>G XP_006721579.2:p.Gly175=
XM_011523829.2:c.525C>G XP_011522131.1:p.Gly175=
XM_011523830.2:c.525C>G XP_011522132.1:p.Gly175=
XM_024450741.1:c.525C>G XP_024306509.1:p.Gly175=
XR_934021.2:n.584C>G
XR_934022.2:n.584C>G
XR_934023.2:n.584C>G
NM_000018.4:c.525C>G MANE Select NP_000009.1:p.Gly175=
NM_001033859.3:c.459C>G NP_001029031.1:p.Gly153=
NM_001270447.2:c.594C>G NP_001257376.1:p.Gly198=
NM_001270448.2:c.297C>G NP_001257377.1:p.Gly99=
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