Canonical Allele Identifier: CA386601906
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121177173C>G (hg19) chr12:g.120739370C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739370C>G , CM000674.2:g.120739370C>G GRCh38
NC_000012.11:g.121177173C>G , CM000674.1:g.121177173C>G GRCh37
NC_000012.10:g.119661556C>G NCBI36
NG_007991.1:g.18603C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1161C>G MANE Select ENSP00000242592.4:p.Ile387Met
ENST00000242592.8:c.1161C>G ENSP00000242592.4:p.Ile387Met
ENST00000411593.2:c.1149C>G ENSP00000401045.2:p.Ile383Met
NM_000017.3:c.1161C>G NP_000008.1:p.Ile387Met
NM_001302554.1:c.1149C>G NP_001289483.1:p.Ile383Met
NM_000017.4:c.1161C>G MANE Select NP_000008.1:p.Ile387Met
NM_001302554.2:c.1149C>G NP_001289483.1:p.Ile383Met
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