Canonical Allele Identifier: CA312234
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 203563
ClinVar RCV Id: RCV000185697 RCV000675052
dbSNP Id: rs796051905
gnomAD v2: 12-121177124-G-T
gnomAD v3: 12-120739321-G-T
gnomAD v4: 12-120739321-G-T
MyVariant Identifiers: chr12:g.121177124G>T (hg19) chr12:g.120739321G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739321G>T , CM000674.2:g.120739321G>T GRCh38
NC_000012.11:g.121177124G>T , CM000674.1:g.121177124G>T GRCh37
NC_000012.10:g.119661507G>T NCBI36
NG_007991.1:g.18554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1112G>T MANE Select ENSP00000242592.4:p.Gly371Val
ENST00000242592.8:c.1112G>T ENSP00000242592.4:p.Gly371Val
ENST00000411593.2:c.1100G>T ENSP00000401045.2:p.Gly367Val
NM_000017.3:c.1112G>T NP_000008.1:p.Gly371Val
NM_001302554.1:c.1100G>T NP_001289483.1:p.Gly367Val
NM_000017.4:c.1112G>T MANE Select NP_000008.1:p.Gly371Val
NM_001302554.2:c.1100G>T NP_001289483.1:p.Gly367Val
Search 100 bp 5'
Search 100 bp 3'