Canonical Allele Identifier: CA312228

Gene: ACADS

Linked Data

• ClinVar Variation Id: 203560
• ClinVar RCV Id: RCV000185694 ; RCV000411694
• dbSNP Id: rs368469075
• ExAC: 12:121177107 G / T
• gnomAD v2: 12-121177107-G-T
• gnomAD v3: 12-120739304-G-T
• gnomAD v4: 12-120739304-G-T
• MyVariant Identifiers: chr12:g.121177107G>T (hg19) ; chr12:g.120739304G>T (hg38)
• PubMed: PMID:12872838 ; PMID:14506246 ; PMID:18523805 ; PMID:18951053 ; PMID:22241096 ; PMID:23798014

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120739304G>T , CM000674.2:g.120739304G>T	GRCh38
NC_000012.11:g.121177107G>T , CM000674.1:g.121177107G>T	GRCh37
NC_000012.10:g.119661490G>T	NCBI36
NG_007991.1:g.18537G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000242592.9:c.1095G>T MANE Select	ENSP00000242592.4:p.Gln365His
ENST00000242592.8:c.1095G>T	ENSP00000242592.4:p.Gln365His
ENST00000411593.2:c.1083G>T	ENSP00000401045.2:p.Gln361His
NM_000017.3:c.1095G>T	NP_000008.1:p.Gln365His
NM_001302554.1:c.1083G>T	NP_001289483.1:p.Gln361His
NM_000017.4:c.1095G>T MANE Select	NP_000008.1:p.Gln365His
NM_001302554.2:c.1083G>T	NP_001289483.1:p.Gln361His