Canonical Allele Identifier: CA378618318

Gene: ACADSB

Linked Data

• MyVariant Identifiers: chr10:g.124800132A>C (hg19) ; chr10:g.123040616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.123040616A>C , CM000672.2:g.123040616A>C	GRCh38
NC_000010.10:g.124800132A>C , CM000672.1:g.124800132A>C	GRCh37
NC_000010.9:g.124790122A>C	NCBI36
NG_008003.1:g.36704A>C , LRG_451:g.36704A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000358776.7:c.454A>C MANE Select	ENSP00000357873.3:p.Lys152Gln
ENST00000358776.6:c.454A>C	ENSP00000357873.3:p.Lys152Gln
ENST00000368869.8:c.148A>C	ENSP00000357862.4:p.Lys50Gln
ENST00000411816.2:n.471A>C
NM_001609.3:c.454A>C , LRG_451t1:c.454A>C	NP_001600.1:p.Lys152Gln
NM_001330174.1:c.148A>C	NP_001317103.1:p.Lys50Gln
NM_001330174.2:c.148A>C	NP_001317103.1:p.Lys50Gln
NM_001609.4:c.454A>C MANE Select	NP_001600.1:p.Lys152Gln
NM_001330174.3:c.148A>C	NP_001317103.1:p.Lys50Gln