Canonical Allele Identifier: CA2084843

Gene: ACADL

Linked Data

• dbSNP Id: rs149023402
• ExAC: 2:211059961 G / A
• gnomAD v2: 2-211059961-G-A
• gnomAD v3: 2-210195237-G-A
• gnomAD v4: 2-210195237-G-A
• MyVariant Identifiers: chr2:g.211059961G>A (hg19) ; chr2:g.210195237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195237G>A , CM000664.2:g.210195237G>A	GRCh38
NC_000002.11:g.211059961G>A , CM000664.1:g.211059961G>A	GRCh37
NC_000002.10:g.210768206G>A	NCBI36
NG_008002.1:g.35255C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.1086C>T MANE Select	ENSP00000233710.3:p.Ser362=
ENST00000652584.1:n.1314C>T
ENST00000233710.3:c.1086C>T	ENSP00000233710.3:p.Ser362=
NM_001608.3:c.1086C>T	NP_001599.1:p.Ser362=
XM_005246517.3:c.1023C>T	XP_005246574.1:p.Ser341=
XM_005246517.4:c.1023C>T	XP_005246574.1:p.Ser341=
XM_017003955.1:c.663C>T	XP_016859444.1:p.Ser221=
NM_001608.4:c.1086C>T MANE Select	NP_001599.1:p.Ser362=