Canonical Allele Identifier: CA16619448
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 421618
ClinVar RCV Id: RCV000486356
dbSNP Id: rs1064795254

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737094_120737096delinsTGC , CM000674.2:g.120737094_120737096delinsTGC GRCh38
NC_000012.11:g.121174897_121174899delinsTGC , CM000674.1:g.121174897_121174899delinsTGC GRCh37
NC_000012.10:g.119659280_119659282delinsTGC NCBI36
NG_007991.1:g.16327_16329delinsTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.319_321delinsTGC MANE Select ENSP00000242592.4:p.Arg107Cys
ENST00000242592.8:c.319_321delinsTGC ENSP00000242592.4:p.Arg107Cys
ENST00000411593.2:c.319_321delinsTGC ENSP00000401045.2:p.Arg107Cys
ENST00000539690.1:n.431_433delinsTGC
NM_000017.3:c.319_321delinsTGC NP_000008.1:p.Arg107Cys
NM_001302554.1:c.319_321delinsTGC NP_001289483.1:p.Arg107Cys
NM_000017.4:c.319_321delinsTGC MANE Select NP_000008.1:p.Arg107Cys
NM_001302554.2:c.319_321delinsTGC NP_001289483.1:p.Arg107Cys