Canonical Allele Identifier: CA482146459

Gene: ACADS

Linked Data

• dbSNP Id: rs1883474832
• gnomAD v4: 12-120737132-C-T
• MyVariant Identifiers: chr12:g.121174935C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120737132C>T , CM000674.2:g.120737132C>T	GRCh38
NC_000012.11:g.121174935C>T , CM000674.1:g.121174935C>T	GRCh37
NC_000012.10:g.119659318C>T	NCBI36
NG_007991.1:g.16365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.357C>T MANE Select	ENSP00000242592.4:p.Asn119=
ENST00000242592.8:c.357C>T	ENSP00000242592.4:p.Asn119=
ENST00000411593.2:c.357C>T	ENSP00000401045.2:p.Asn119=
ENST00000539690.1:n.469C>T
NM_000017.3:c.357C>T	NP_000008.1:p.Asn119=
NM_001302554.1:c.357C>T	NP_001289483.1:p.Asn119=
NM_000017.4:c.357C>T MANE Select	NP_000008.1:p.Asn119=
NM_001302554.2:c.357C>T	NP_001289483.1:p.Asn119=