Canonical Allele Identifier: CA350419263

Gene: ACADL

Linked Data

• MyVariant Identifiers: chr2:g.211060062T>G (hg19) ; chr2:g.210195338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195338T>G , CM000664.2:g.210195338T>G	GRCh38
NC_000002.11:g.211060062T>G , CM000664.1:g.211060062T>G	GRCh37
NC_000002.10:g.210768307T>G	NCBI36
NG_008002.1:g.35154A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.985A>C MANE Select	ENSP00000233710.3:p.Thr329Pro
ENST00000652584.1:n.1213A>C
ENST00000233710.3:c.985A>C	ENSP00000233710.3:p.Thr329Pro
NM_001608.3:c.985A>C	NP_001599.1:p.Thr329Pro
XM_005246517.3:c.922A>C	XP_005246574.1:p.Thr308Pro
XM_005246517.4:c.922A>C	XP_005246574.1:p.Thr308Pro
XM_017003955.1:c.562A>C	XP_016859444.1:p.Thr188Pro
NM_001608.4:c.985A>C MANE Select	NP_001599.1:p.Thr329Pro