Canonical Allele Identifier: CA350419193
Gene: ACADL HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.211060050T>C (hg19) chr2:g.210195326T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195326T>C , CM000664.2:g.210195326T>C GRCh38
NC_000002.11:g.211060050T>C , CM000664.1:g.211060050T>C GRCh37
NC_000002.10:g.210768295T>C NCBI36
NG_008002.1:g.35166A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.997A>G MANE Select ENSP00000233710.3:p.Lys333Glu
ENST00000652584.1:n.1225A>G
ENST00000233710.3:c.997A>G ENSP00000233710.3:p.Lys333Glu
NM_001608.3:c.997A>G NP_001599.1:p.Lys333Glu
XM_005246517.3:c.934A>G XP_005246574.1:p.Lys312Glu
XM_005246517.4:c.934A>G XP_005246574.1:p.Lys312Glu
XM_017003955.1:c.574A>G XP_016859444.1:p.Lys192Glu
NM_001608.4:c.997A>G MANE Select NP_001599.1:p.Lys333Glu
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