Canonical Allele Identifier: CA5730627

Gene: ACADSB

Linked Data

• ClinVar Variation Id: 299072
• ClinVar RCV Id: RCV000281775 ; RCV001706446 ; RCV003930249
• dbSNP Id: rs34221067
• ExAC: 10:124793997 A / G
• gnomAD v2: 10-124793997-A-G
• gnomAD v3: 10-123034481-A-G
• gnomAD v4: 10-123034481-A-G
• MyVariant Identifiers: chr10:g.124793997A>G (hg19) ; chr10:g.123034481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034481A>G , CM000672.2:g.123034481A>G	GRCh38
NC_000010.10:g.124793997A>G , CM000672.1:g.124793997A>G	GRCh37
NC_000010.9:g.124783987A>G	NCBI36
NG_008003.1:g.30569A>G , LRG_451:g.30569A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358776.7:c.168A>G MANE Select	ENSP00000357873.3:p.Thr56=
ENST00000358776.6:c.168A>G	ENSP00000357873.3:p.Thr56=
ENST00000368869.8:c.-38A>G	ENSP00000357862.4:n.-38A>G
ENST00000411816.2:n.185A>G
NM_001609.3:c.168A>G , LRG_451t1:c.168A>G	NP_001600.1:p.Thr56=
NM_001330174.1:c.-38A>G	NP_001317103.1:n.-38A>G
NM_001330174.2:c.-38A>G	NP_001317103.1:n.-38A>G
NM_001609.4:c.168A>G MANE Select	NP_001600.1:p.Thr56=
NM_001330174.3:c.-38A>G	NP_001317103.1:n.-38A>G