Canonical Allele Identifier: CA397723494
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222032-A-G
MyVariant Identifiers: chr17:g.7125351A>G (hg19) chr17:g.7222032A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222032A>G , CM000679.2:g.7222032A>G GRCh38
NC_000017.10:g.7125351A>G , CM000679.1:g.7125351A>G GRCh37
NC_000017.9:g.7066075A>G NCBI36
NG_007975.1:g.7199A>G
NG_008391.2:g.3019T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.703A>G MANE Select ENSP00000349297.5:p.Ser235Gly
ENST00000322910.9:c.*658A>G ENSP00000325395.5:n.*658A>G
ENST00000350303.9:c.637A>G ENSP00000344152.5:p.Ser213Gly
ENST00000356839.9:c.703A>G ENSP00000349297.5:p.Ser235Gly
ENST00000543245.6:c.772A>G ENSP00000438689.2:p.Ser258Gly
ENST00000577191.5:n.780A>G
ENST00000577857.5:n.519A>G
ENST00000579286.5:n.884A>G
ENST00000580365.1:n.434A>G
ENST00000581378.5:c.421A>G
ENST00000582379.1:n.87A>G
ENST00000583760.1:n.485A>G
NM_000018.3:c.703A>G NP_000009.1:p.Ser235Gly
NM_001033859.2:c.637A>G NP_001029031.1:p.Ser213Gly
NM_001270447.1:c.772A>G NP_001257376.1:p.Ser258Gly
NM_001270448.1:c.475A>G NP_001257377.1:p.Ser159Gly
XM_006721516.2:c.703A>G XP_006721579.2:p.Ser235Gly
XM_011523829.1:c.703A>G XP_011522131.1:p.Ser235Gly
XM_011523830.1:c.703A>G XP_011522132.1:p.Ser235Gly
XR_934021.1:n.810A>G
XR_934022.1:n.810A>G
XR_934023.1:n.810A>G
XM_006721516.3:c.703A>G XP_006721579.2:p.Ser235Gly
XM_011523829.2:c.703A>G XP_011522131.1:p.Ser235Gly
XM_011523830.2:c.703A>G XP_011522132.1:p.Ser235Gly
XM_024450741.1:c.703A>G XP_024306509.1:p.Ser235Gly
XR_934021.2:n.762A>G
XR_934022.2:n.762A>G
XR_934023.2:n.762A>G
NM_000018.4:c.703A>G MANE Select NP_000009.1:p.Ser235Gly
NM_001033859.3:c.637A>G NP_001029031.1:p.Ser213Gly
NM_001270447.2:c.772A>G NP_001257376.1:p.Ser258Gly
NM_001270448.2:c.475A>G NP_001257377.1:p.Ser159Gly
Search 100 bp 5'
Search 100 bp 3'