Canonical Allele Identifier: CA6831153
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 557389
ClinVar RCV Id: RCV000673525
dbSNP Id: rs199633532
ExAC: 12:121176678 G / A
gnomAD v2: 12-121176678-G-A
gnomAD v3: 12-120738875-G-A
gnomAD v4: 12-120738875-G-A
COSMIC: COSM467904
MyVariant Identifiers: chr12:g.121176678G>A (hg19) chr12:g.120738875G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738875G>A , CM000674.2:g.120738875G>A GRCh38
NC_000012.11:g.121176678G>A , CM000674.1:g.121176678G>A GRCh37
NC_000012.10:g.119661061G>A NCBI36
NG_007991.1:g.18108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.989G>A MANE Select ENSP00000242592.4:p.Arg330His
ENST00000242592.8:c.989G>A ENSP00000242592.4:p.Arg330His
ENST00000411593.2:c.977G>A ENSP00000401045.2:p.Arg326His
NM_000017.3:c.989G>A NP_000008.1:p.Arg330His
NM_001302554.1:c.977G>A NP_001289483.1:p.Arg326His
NM_000017.4:c.989G>A MANE Select NP_000008.1:p.Arg330His
NM_001302554.2:c.977G>A NP_001289483.1:p.Arg326His
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Search 100 bp 3'