Canonical Allele Identifier: CA482146932

Gene: ACADS

Linked Data

• ClinVar Variation Id: 3003858
• ClinVar RCV Id: RCV003863433
• MyVariant Identifiers: chr12:g.121177191C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739388C>T , CM000674.2:g.120739388C>T	GRCh38
NC_000012.11:g.121177191C>T , CM000674.1:g.121177191C>T	GRCh37
NC_000012.10:g.119661574C>T	NCBI36
NG_007991.1:g.18621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.1179C>T MANE Select	ENSP00000242592.4:p.Gly393=
ENST00000242592.8:c.1179C>T	ENSP00000242592.4:p.Gly393=
ENST00000411593.2:c.1167C>T	ENSP00000401045.2:p.Gly389=
NM_000017.3:c.1179C>T	NP_000008.1:p.Gly393=
NM_001302554.1:c.1167C>T	NP_001289483.1:p.Gly389=
NM_000017.4:c.1179C>T MANE Select	NP_000008.1:p.Gly393=
NM_001302554.2:c.1167C>T	NP_001289483.1:p.Gly389=