Canonical Allele Identifier: CA350418516

Gene: ACADL

Linked Data

• MyVariant Identifiers: chr2:g.211059950C>A (hg19) ; chr2:g.210195226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195226C>A , CM000664.2:g.210195226C>A	GRCh38
NC_000002.11:g.211059950C>A , CM000664.1:g.211059950C>A	GRCh37
NC_000002.10:g.210768195C>A	NCBI36
NG_008002.1:g.35266G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.1097G>T MANE Select	ENSP00000233710.3:p.Cys366Phe
ENST00000652584.1:n.1325G>T
ENST00000233710.3:c.1097G>T	ENSP00000233710.3:p.Cys366Phe
NM_001608.3:c.1097G>T	NP_001599.1:p.Cys366Phe
XM_005246517.3:c.1034G>T	XP_005246574.1:p.Cys345Phe
XM_005246517.4:c.1034G>T	XP_005246574.1:p.Cys345Phe
XM_017003955.1:c.674G>T	XP_016859444.1:p.Cys225Phe
NM_001608.4:c.1097G>T MANE Select	NP_001599.1:p.Cys366Phe