Canonical Allele Identifier: CA230802

Gene: ACADL

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001608.4:c.997A>C MANE Select	NP_001599.1:p.Lys333Gln
ENST00000233710.4:c.997A>C MANE Select	ENSP00000233710.3:p.Lys333Gln
NM_001608.3:c.997A>C	NP_001599.1:p.Lys333Gln
ENST00000233710.3:c.997A>C	ENSP00000233710.3:p.Lys333Gln
ENST00000652584.1:n.1225A>C
XM_005246517.3:c.934A>C	XP_005246574.1:p.Lys312Gln
XM_005246517.4:c.934A>C	XP_005246574.1:p.Lys312Gln
XM_017003955.1:c.574A>C	XP_016859444.1:p.Lys192Gln