Canonical Allele Identifier: CA350418582

Gene: ACADL

Linked Data

• MyVariant Identifiers: chr2:g.211059962G>T (hg19) ; chr2:g.210195238G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210195238G>T , CM000664.2:g.210195238G>T	GRCh38
NC_000002.11:g.211059962G>T , CM000664.1:g.211059962G>T	GRCh37
NC_000002.10:g.210768207G>T	NCBI36
NG_008002.1:g.35254C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233710.4:c.1085C>A MANE Select	ENSP00000233710.3:p.Ser362Tyr
ENST00000652584.1:n.1313C>A
ENST00000233710.3:c.1085C>A	ENSP00000233710.3:p.Ser362Tyr
NM_001608.3:c.1085C>A	NP_001599.1:p.Ser362Tyr
XM_005246517.3:c.1022C>A	XP_005246574.1:p.Ser341Tyr
XM_005246517.4:c.1022C>A	XP_005246574.1:p.Ser341Tyr
XM_017003955.1:c.662C>A	XP_016859444.1:p.Ser221Tyr
NM_001608.4:c.1085C>A MANE Select	NP_001599.1:p.Ser362Tyr