Canonical Allele Identifier: CA350418527

Gene: ACADL

Linked Data

• MyVariant Identifiers: chr2:g.211059951A>T (hg19) ; chr2:g.210195227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195227A>T , CM000664.2:g.210195227A>T	GRCh38
NC_000002.11:g.211059951A>T , CM000664.1:g.211059951A>T	GRCh37
NC_000002.10:g.210768196A>T	NCBI36
NG_008002.1:g.35265T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.1096T>A MANE Select	ENSP00000233710.3:p.Cys366Ser
ENST00000652584.1:n.1324T>A
ENST00000233710.3:c.1096T>A	ENSP00000233710.3:p.Cys366Ser
NM_001608.3:c.1096T>A	NP_001599.1:p.Cys366Ser
XM_005246517.3:c.1033T>A	XP_005246574.1:p.Cys345Ser
XM_005246517.4:c.1033T>A	XP_005246574.1:p.Cys345Ser
XM_017003955.1:c.673T>A	XP_016859444.1:p.Cys225Ser
NM_001608.4:c.1096T>A MANE Select	NP_001599.1:p.Cys366Ser