Canonical Allele Identifier: CA596395648

Gene: ACADSB

Linked Data

• ClinVar Variation Id: 448980
• ClinVar RCV Id: RCV000009779 ; RCV000522412 ; RCV003419901
• dbSNP Id: rs1345480688
• gnomAD v2: 10-124797366-A-G
• gnomAD v3: 10-123037850-A-G
• gnomAD v4: 10-123037850-A-G
• MyVariant Identifiers: chr10:g.124797366A>G (hg19) ; chr10:g.123037850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123037850A>G , CM000672.2:g.123037850A>G	GRCh38
NC_000010.10:g.124797366A>G , CM000672.1:g.124797366A>G	GRCh37
NC_000010.9:g.124787356A>G	NCBI36
NG_008003.1:g.33938A>G , LRG_451:g.33938A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.303+3A>G MANE Select	ENSP00000357873.3:n.303+3A>G
ENST00000358776.6:c.303+3A>G	ENSP00000357873.3:n.303+3A>G
ENST00000368869.8:c.-3-2616A>G	ENSP00000357862.4:n.-3-2616A>G
ENST00000411816.2:n.320+3A>G
NM_001609.3:c.303+3A>G , LRG_451t1:c.303+3A>G	NP_001600.1:n.303+3A>G
NM_001330174.1:c.-3-2616A>G	NP_001317103.1:n.-3-2616A>G
NM_001330174.2:c.-3-2616A>G	NP_001317103.1:n.-3-2616A>G
NM_001609.4:c.303+3A>G MANE Select	NP_001600.1:n.303+3A>G
NM_001330174.3:c.-3-2616A>G	NP_001317103.1:n.-3-2616A>G