Canonical Allele Identifier: CA386601347

Gene: ACADS

Linked Data

• gnomAD v4: 12-120738645-C-T
• MyVariant Identifiers: chr12:g.121176448C>T (hg19) ; chr12:g.120738645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738645C>T , CM000674.2:g.120738645C>T	GRCh38
NC_000012.11:g.121176448C>T , CM000674.1:g.121176448C>T	GRCh37
NC_000012.10:g.119660831C>T	NCBI36
NG_007991.1:g.17878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.908C>T MANE Select	ENSP00000242592.4:p.Pro303Leu
ENST00000242592.8:c.908C>T	ENSP00000242592.4:p.Pro303Leu
ENST00000411593.2:c.896C>T	ENSP00000401045.2:p.Pro299Leu
NM_000017.3:c.908C>T	NP_000008.1:p.Pro303Leu
NM_001302554.1:c.896C>T	NP_001289483.1:p.Pro299Leu
NM_000017.4:c.908C>T MANE Select	NP_000008.1:p.Pro303Leu
NM_001302554.2:c.896C>T	NP_001289483.1:p.Pro299Leu