Canonical Allele Identifier: CA386601361

Gene: ACADS

Linked Data

• ClinVar Variation Id: 1726454
• ClinVar RCV Id: RCV002310138
• MyVariant Identifiers: chr12:g.121176456A>T (hg19) ; chr12:g.120738653A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738653A>T , CM000674.2:g.120738653A>T	GRCh38
NC_000012.11:g.121176456A>T , CM000674.1:g.121176456A>T	GRCh37
NC_000012.10:g.119660839A>T	NCBI36
NG_007991.1:g.17886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.916A>T MANE Select	ENSP00000242592.4:p.Lys306Ter
ENST00000242592.8:c.916A>T	ENSP00000242592.4:p.Lys306Ter
ENST00000411593.2:c.904A>T	ENSP00000401045.2:p.Lys302Ter
NM_000017.3:c.916A>T	NP_000008.1:p.Lys306Ter
NM_001302554.1:c.904A>T	NP_001289483.1:p.Lys302Ter
NM_000017.4:c.916A>T MANE Select	NP_000008.1:p.Lys306Ter
NM_001302554.2:c.904A>T	NP_001289483.1:p.Lys302Ter