Canonical Allele Identifier: CA397724103
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126092G>A (hg19) chr17:g.7222773G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222773G>A , CM000679.2:g.7222773G>A GRCh38
NC_000017.10:g.7126092G>A , CM000679.1:g.7126092G>A GRCh37
NC_000017.9:g.7066816G>A NCBI36
NG_007975.1:g.7940G>A
NG_008391.2:g.2278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.985G>A MANE Select ENSP00000349297.5:p.Gly329Ser
ENST00000322910.9:c.*940G>A ENSP00000325395.5:n.*940G>A
ENST00000350303.9:c.919G>A ENSP00000344152.5:p.Gly307Ser
ENST00000356839.9:c.985G>A ENSP00000349297.5:p.Gly329Ser
ENST00000543245.6:c.1054G>A ENSP00000438689.2:p.Gly352Ser
ENST00000578824.5:n.134G>A
ENST00000581378.5:c.703G>A
ENST00000582379.1:n.369G>A
ENST00000583858.5:c.14G>A
NM_000018.3:c.985G>A NP_000009.1:p.Gly329Ser
NM_001033859.2:c.919G>A NP_001029031.1:p.Gly307Ser
NM_001270447.1:c.1054G>A NP_001257376.1:p.Gly352Ser
NM_001270448.1:c.757G>A NP_001257377.1:p.Gly253Ser
XM_006721516.2:c.985G>A XP_006721579.2:p.Gly329Ser
XM_011523829.1:c.985G>A XP_011522131.1:p.Gly329Ser
XM_011523830.1:c.985G>A XP_011522132.1:p.Gly329Ser
XR_934021.1:n.1092G>A
XR_934022.1:n.1092G>A
XR_934023.1:n.1092G>A
XM_006721516.3:c.985G>A XP_006721579.2:p.Gly329Ser
XM_011523829.2:c.985G>A XP_011522131.1:p.Gly329Ser
XM_011523830.2:c.985G>A XP_011522132.1:p.Gly329Ser
XM_024450741.1:c.985G>A XP_024306509.1:p.Gly329Ser
XR_934021.2:n.1044G>A
XR_934022.2:n.1044G>A
XR_934023.2:n.1044G>A
NM_000018.4:c.985G>A MANE Select NP_000009.1:p.Gly329Ser
NM_001033859.3:c.919G>A NP_001029031.1:p.Gly307Ser
NM_001270447.2:c.1054G>A NP_001257376.1:p.Gly352Ser
NM_001270448.2:c.757G>A NP_001257377.1:p.Gly253Ser
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