Canonical Allele Identifier: CA482146377

Gene: ACADS

Linked Data

• ClinVar Variation Id: 2106917
• ClinVar RCV Id: RCV003026709
• MyVariant Identifiers: chr12:g.121174863C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737060C>T , CM000674.2:g.120737060C>T	GRCh38
NC_000012.11:g.121174863C>T , CM000674.1:g.121174863C>T	GRCh37
NC_000012.10:g.119659246C>T	NCBI36
NG_007991.1:g.16293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.285C>T MANE Select	ENSP00000242592.4:p.Tyr95=
ENST00000242592.8:c.285C>T	ENSP00000242592.4:p.Tyr95=
ENST00000411593.2:c.285C>T	ENSP00000401045.2:p.Tyr95=
ENST00000539690.1:n.397C>T
NM_000017.3:c.285C>T	NP_000008.1:p.Tyr95=
NM_001302554.1:c.285C>T	NP_001289483.1:p.Tyr95=
NM_000017.4:c.285C>T MANE Select	NP_000008.1:p.Tyr95=
NM_001302554.2:c.285C>T	NP_001289483.1:p.Tyr95=