Canonical Allele Identifier: CA386601369

Gene: ACADS

Linked Data

• gnomAD v4: 12-120738656-C-T
• MyVariant Identifiers: chr12:g.121176459C>T (hg19) ; chr12:g.120738656C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.919C>T MANE Select	ENSP00000242592.4:p.Leu307Phe
ENST00000242592.8:c.919C>T	ENSP00000242592.4:p.Leu307Phe
ENST00000411593.2:c.907C>T	ENSP00000401045.2:p.Leu303Phe
NM_000017.3:c.919C>T	NP_000008.1:p.Leu307Phe
NM_001302554.1:c.907C>T	NP_001289483.1:p.Leu303Phe
NM_000017.4:c.919C>T MANE Select	NP_000008.1:p.Leu307Phe
NM_001302554.2:c.907C>T	NP_001289483.1:p.Leu303Phe