Canonical Allele Identifier: CA350419233
Gene: ACADL HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.211060056G>C (hg19) chr2:g.210195332G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195332G>C , CM000664.2:g.210195332G>C GRCh38
NC_000002.11:g.211060056G>C , CM000664.1:g.211060056G>C GRCh37
NC_000002.10:g.210768301G>C NCBI36
NG_008002.1:g.35160C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.991C>G MANE Select ENSP00000233710.3:p.Gln331Glu
ENST00000652584.1:n.1219C>G
ENST00000233710.3:c.991C>G ENSP00000233710.3:p.Gln331Glu
NM_001608.3:c.991C>G NP_001599.1:p.Gln331Glu
XM_005246517.3:c.928C>G XP_005246574.1:p.Gln310Glu
XM_005246517.4:c.928C>G XP_005246574.1:p.Gln310Glu
XM_017003955.1:c.568C>G XP_016859444.1:p.Gln190Glu
NM_001608.4:c.991C>G MANE Select NP_001599.1:p.Gln331Glu
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