Canonical Allele Identifier: CA386601332
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121176440C>A (hg19) chr12:g.120738637C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738637C>A , CM000674.2:g.120738637C>A GRCh38
NC_000012.11:g.121176440C>A , CM000674.1:g.121176440C>A GRCh37
NC_000012.10:g.119660823C>A NCBI36
NG_007991.1:g.17870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.900C>A MANE Select ENSP00000242592.4:p.Phe300Leu
ENST00000242592.8:c.900C>A ENSP00000242592.4:p.Phe300Leu
ENST00000411593.2:c.888C>A ENSP00000401045.2:p.Phe296Leu
NM_000017.3:c.900C>A NP_000008.1:p.Phe300Leu
NM_001302554.1:c.888C>A NP_001289483.1:p.Phe296Leu
NM_000017.4:c.900C>A MANE Select NP_000008.1:p.Phe300Leu
NM_001302554.2:c.888C>A NP_001289483.1:p.Phe296Leu
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