Canonical Allele Identifier: CA386601523

Gene: ACADS

Linked Data

• MyVariant Identifiers: chr12:g.121176676G>T (hg19) ; chr12:g.120738873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738873G>T , CM000674.2:g.120738873G>T	GRCh38
NC_000012.11:g.121176676G>T , CM000674.1:g.121176676G>T	GRCh37
NC_000012.10:g.119661059G>T	NCBI36
NG_007991.1:g.18106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.987G>T MANE Select	ENSP00000242592.4:p.Trp329Cys
ENST00000242592.8:c.987G>T	ENSP00000242592.4:p.Trp329Cys
ENST00000411593.2:c.975G>T	ENSP00000401045.2:p.Trp325Cys
NM_000017.3:c.987G>T	NP_000008.1:p.Trp329Cys
NM_001302554.1:c.975G>T	NP_001289483.1:p.Trp325Cys
NM_000017.4:c.987G>T MANE Select	NP_000008.1:p.Trp329Cys
NM_001302554.2:c.975G>T	NP_001289483.1:p.Trp325Cys