Canonical Allele Identifier: CA350419210

Gene: ACADL

Linked Data

• gnomAD v4: 2-210195329-G-T
• MyVariant Identifiers: chr2:g.211060053G>T (hg19) ; chr2:g.210195329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195329G>T , CM000664.2:g.210195329G>T	GRCh38
NC_000002.11:g.211060053G>T , CM000664.1:g.211060053G>T	GRCh37
NC_000002.10:g.210768298G>T	NCBI36
NG_008002.1:g.35163C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.994C>A MANE Select	ENSP00000233710.3:p.His332Asn
ENST00000652584.1:n.1222C>A
ENST00000233710.3:c.994C>A	ENSP00000233710.3:p.His332Asn
NM_001608.3:c.994C>A	NP_001599.1:p.His332Asn
XM_005246517.3:c.931C>A	XP_005246574.1:p.His311Asn
XM_005246517.4:c.931C>A	XP_005246574.1:p.His311Asn
XM_017003955.1:c.571C>A	XP_016859444.1:p.His191Asn
NM_001608.4:c.994C>A MANE Select	NP_001599.1:p.His332Asn