Canonical Allele Identifier: CA596395380

Gene: ACADSB

Linked Data

• dbSNP Id: rs1428055139
• gnomAD v2: 10-124794062-T-A
• gnomAD v4: 10-123034546-T-A
• MyVariant Identifiers: chr10:g.124794062T>A (hg19) ; chr10:g.123034546T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034546T>A , CM000672.2:g.123034546T>A	GRCh38
NC_000010.10:g.124794062T>A , CM000672.1:g.124794062T>A	GRCh37
NC_000010.9:g.124784052T>A	NCBI36
NG_008003.1:g.30634T>A , LRG_451:g.30634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.202+31T>A MANE Select	ENSP00000357873.3:n.202+31T>A
ENST00000358776.6:c.202+31T>A	ENSP00000357873.3:n.202+31T>A
ENST00000368869.8:c.-4+31T>A	ENSP00000357862.4:n.-4+31T>A
ENST00000411816.2:n.219+31T>A
NM_001609.3:c.202+31T>A , LRG_451t1:c.202+31T>A	NP_001600.1:n.202+31T>A
NM_001330174.1:c.-4+31T>A	NP_001317103.1:n.-4+31T>A
NM_001330174.2:c.-4+31T>A	NP_001317103.1:n.-4+31T>A
NM_001609.4:c.202+31T>A MANE Select	NP_001600.1:n.202+31T>A
NM_001330174.3:c.-4+31T>A	NP_001317103.1:n.-4+31T>A