Canonical Allele Identifier: CA312222

Gene: ACADS

Linked Data

• ClinVar Variation Id: 203557
• ClinVar RCV Id: RCV000185690 ; RCV000762888 ; RCV002252029 ; RCV004020248
• dbSNP Id: rs140853839
• ExAC: 12:121176677 C / T
• gnomAD v2: 12-121176677-C-T
• gnomAD v3: 12-120738874-C-T
• gnomAD v4: 12-120738874-C-T
• COSMIC: COSM935963
• MyVariant Identifiers: chr12:g.121176677C>T (hg19) ; chr12:g.120738874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120738874C>T , CM000674.2:g.120738874C>T	GRCh38
NC_000012.11:g.121176677C>T , CM000674.1:g.121176677C>T	GRCh37
NC_000012.10:g.119661060C>T	NCBI36
NG_007991.1:g.18107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242592.9:c.988C>T MANE Select	ENSP00000242592.4:p.Arg330Cys
ENST00000242592.8:c.988C>T	ENSP00000242592.4:p.Arg330Cys
ENST00000411593.2:c.976C>T	ENSP00000401045.2:p.Arg326Cys
NM_000017.3:c.988C>T	NP_000008.1:p.Arg330Cys
NM_001302554.1:c.976C>T	NP_001289483.1:p.Arg326Cys
NM_000017.4:c.988C>T MANE Select	NP_000008.1:p.Arg330Cys
NM_001302554.2:c.976C>T	NP_001289483.1:p.Arg326Cys