Canonical Allele Identifier: CA386601679
Gene: ACADS HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121176968C>A (hg19) chr12:g.120739165C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739165C>A , CM000674.2:g.120739165C>A GRCh38
NC_000012.11:g.121176968C>A , CM000674.1:g.121176968C>A GRCh37
NC_000012.10:g.119661351C>A NCBI36
NG_007991.1:g.18398C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1055C>A MANE Select ENSP00000242592.4:p.Ala352Asp
ENST00000242592.8:c.1055C>A ENSP00000242592.4:p.Ala352Asp
ENST00000411593.2:c.1043C>A ENSP00000401045.2:p.Ala348Asp
NM_000017.3:c.1055C>A NP_000008.1:p.Ala352Asp
NM_001302554.1:c.1043C>A NP_001289483.1:p.Ala348Asp
NM_000017.4:c.1055C>A MANE Select NP_000008.1:p.Ala352Asp
NM_001302554.2:c.1043C>A NP_001289483.1:p.Ala348Asp
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