Canonical Allele Identifier: CA350419231

Gene: ACADL

Linked Data

• MyVariant Identifiers: chr2:g.211060056G>A (hg19) ; chr2:g.210195332G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.991C>T MANE Select	ENSP00000233710.3:p.Gln331Ter
ENST00000652584.1:n.1219C>T
ENST00000233710.3:c.991C>T	ENSP00000233710.3:p.Gln331Ter
NM_001608.3:c.991C>T	NP_001599.1:p.Gln331Ter
XM_005246517.3:c.928C>T	XP_005246574.1:p.Gln310Ter
XM_005246517.4:c.928C>T	XP_005246574.1:p.Gln310Ter
XM_017003955.1:c.568C>T	XP_016859444.1:p.Gln190Ter
NM_001608.4:c.991C>T MANE Select	NP_001599.1:p.Gln331Ter