Canonical Allele Identifier: CA596396337

Gene: ACADSB

Linked Data

• dbSNP Id: rs1300514974
• gnomAD v2: 10-124812556-A-C
• gnomAD v3: 10-123053040-A-C
• gnomAD v4: 10-123053040-A-C
• MyVariant Identifiers: chr10:g.124812556A>C (hg19) ; chr10:g.123053040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123053040A>C , CM000672.2:g.123053040A>C	GRCh38
NC_000010.10:g.124812556A>C , CM000672.1:g.124812556A>C	GRCh37
NC_000010.9:g.124802546A>C	NCBI36
NG_008003.1:g.49128A>C , LRG_451:g.49128A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358776.7:c.1129-21A>C MANE Select	ENSP00000357873.3:n.1129-21A>C
ENST00000358776.6:c.1129-21A>C	ENSP00000357873.3:n.1129-21A>C
ENST00000368869.8:c.823-21A>C	ENSP00000357862.4:n.823-21A>C
ENST00000541070.1:n.280A>C
NM_001609.3:c.1129-21A>C , LRG_451t1:c.1129-21A>C	NP_001600.1:n.1129-21A>C
NM_001330174.1:c.823-21A>C	NP_001317103.1:n.823-21A>C
NM_001330174.2:c.823-21A>C	NP_001317103.1:n.823-21A>C
NM_001609.4:c.1129-21A>C MANE Select	NP_001600.1:n.1129-21A>C
NM_001330174.3:c.823-21A>C	NP_001317103.1:n.823-21A>C