Canonical Allele Identifier: CA386613981
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737014T>A , CM000674.2:g.120737014T>A GRCh38
NC_000012.11:g.121174817T>A , CM000674.1:g.121174817T>A GRCh37
NC_000012.10:g.119659200T>A NCBI36
NG_007991.1:g.16247T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.239T>A MANE Select ENSP00000242592.4:p.Leu80Gln
ENST00000242592.8:c.239T>A ENSP00000242592.4:p.Leu80Gln
ENST00000411593.2:c.239T>A ENSP00000401045.2:p.Leu80Gln
ENST00000539690.1:n.351T>A
NM_000017.3:c.239T>A NP_000008.1:p.Leu80Gln
NM_001302554.1:c.239T>A NP_001289483.1:p.Leu80Gln
NM_000017.4:c.239T>A MANE Select NP_000008.1:p.Leu80Gln
NM_001302554.2:c.239T>A NP_001289483.1:p.Leu80Gln