Canonical Allele Identifier: CA386601351
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738648T>A , CM000674.2:g.120738648T>A GRCh38
NC_000012.11:g.121176451T>A , CM000674.1:g.121176451T>A GRCh37
NC_000012.10:g.119660834T>A NCBI36
NG_007991.1:g.17881T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.911T>A MANE Select ENSP00000242592.4:p.Leu304His
ENST00000242592.8:c.911T>A ENSP00000242592.4:p.Leu304His
ENST00000411593.2:c.899T>A ENSP00000401045.2:p.Leu300His
NM_000017.3:c.911T>A NP_000008.1:p.Leu304His
NM_001302554.1:c.899T>A NP_001289483.1:p.Leu300His
NM_000017.4:c.911T>A MANE Select NP_000008.1:p.Leu304His
NM_001302554.2:c.899T>A NP_001289483.1:p.Leu300His