Canonical Allele Identifier: CA430997701
Gene: ACADL HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.211060057C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195333C>A , CM000664.2:g.210195333C>A GRCh38
NC_000002.11:g.211060057C>A , CM000664.1:g.211060057C>A GRCh37
NC_000002.10:g.210768302C>A NCBI36
NG_008002.1:g.35159G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.990G>T MANE Select ENSP00000233710.3:p.Val330=
ENST00000652584.1:n.1218G>T
ENST00000233710.3:c.990G>T ENSP00000233710.3:p.Val330=
NM_001608.3:c.990G>T NP_001599.1:p.Val330=
XM_005246517.3:c.927G>T XP_005246574.1:p.Val309=
XM_005246517.4:c.927G>T XP_005246574.1:p.Val309=
XM_017003955.1:c.567G>T XP_016859444.1:p.Val189=
NM_001608.4:c.990G>T MANE Select NP_001599.1:p.Val330=