Canonical Allele Identifier: CA386601367
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121176459C>A (hg19) chr12:g.120738656C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738656C>A , CM000674.2:g.120738656C>A GRCh38
NC_000012.11:g.121176459C>A , CM000674.1:g.121176459C>A GRCh37
NC_000012.10:g.119660842C>A NCBI36
NG_007991.1:g.17889C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.919C>A MANE Select ENSP00000242592.4:p.Leu307Ile
ENST00000242592.8:c.919C>A ENSP00000242592.4:p.Leu307Ile
ENST00000411593.2:c.907C>A ENSP00000401045.2:p.Leu303Ile
NM_000017.3:c.919C>A NP_000008.1:p.Leu307Ile
NM_001302554.1:c.907C>A NP_001289483.1:p.Leu303Ile
NM_000017.4:c.919C>A MANE Select NP_000008.1:p.Leu307Ile
NM_001302554.2:c.907C>A NP_001289483.1:p.Leu303Ile
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