Canonical Allele Identifier: CA471754161

Gene: ACADSB

Linked Data

• dbSNP Id: rs1388904259
• gnomAD v2: 10-124793910-G-A
• gnomAD v4: 10-123034394-G-A
• MyVariant Identifiers: chr10:g.124793910G>A (hg19) ; chr10:g.123034394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034394G>A , CM000672.2:g.123034394G>A	GRCh38
NC_000010.10:g.124793910G>A , CM000672.1:g.124793910G>A	GRCh37
NC_000010.9:g.124783900G>A	NCBI36
NG_008003.1:g.30482G>A , LRG_451:g.30482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.81G>A MANE Select	ENSP00000357873.3:p.Lys27=
ENST00000358776.6:c.81G>A	ENSP00000357873.3:p.Lys27=
ENST00000368869.8:c.-125G>A	ENSP00000357862.4:n.-125G>A
ENST00000411816.2:n.98G>A
NM_001609.3:c.81G>A , LRG_451t1:c.81G>A	NP_001600.1:p.Lys27=
NM_001330174.1:c.-125G>A	NP_001317103.1:n.-125G>A
NM_001330174.2:c.-125G>A	NP_001317103.1:n.-125G>A
NM_001609.4:c.81G>A MANE Select	NP_001600.1:p.Lys27=
NM_001330174.3:c.-125G>A	NP_001317103.1:n.-125G>A