Canonical Allele Identifier: CA378615624

Gene: ACADSB

Linked Data

• dbSNP Id: rs1200448859
• gnomAD v2: 10-124793893-T-C
• gnomAD v4: 10-123034377-T-C
• MyVariant Identifiers: chr10:g.124793893T>C (hg19) ; chr10:g.123034377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123034377T>C , CM000672.2:g.123034377T>C	GRCh38
NC_000010.10:g.124793893T>C , CM000672.1:g.124793893T>C	GRCh37
NC_000010.9:g.124783883T>C	NCBI36
NG_008003.1:g.30465T>C , LRG_451:g.30465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358776.7:c.64T>C MANE Select	ENSP00000357873.3:p.Cys22Arg
ENST00000358776.6:c.64T>C	ENSP00000357873.3:p.Cys22Arg
ENST00000368869.8:c.-142T>C	ENSP00000357862.4:n.-142T>C
ENST00000411816.2:n.81T>C
NM_001609.3:c.64T>C , LRG_451t1:c.64T>C	NP_001600.1:p.Cys22Arg
NM_001330174.1:c.-142T>C	NP_001317103.1:n.-142T>C
NM_001330174.2:c.-142T>C	NP_001317103.1:n.-142T>C
NM_001609.4:c.64T>C MANE Select	NP_001600.1:p.Cys22Arg
NM_001330174.3:c.-142T>C	NP_001317103.1:n.-142T>C