Canonical Allele Identifier: CA312244
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 203568
ClinVar RCV Id: RCV001045267
dbSNP Id: rs147494970
ExAC: 12:121164829 C / T
gnomAD v2: 12-121164829-C-T
gnomAD v3: 12-120727026-C-T
gnomAD v4: 12-120727026-C-T
MyVariant Identifiers: chr12:g.121164829C>T (hg19) chr12:g.120727026C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727026C>T , CM000674.2:g.120727026C>T GRCh38
NC_000012.11:g.121164829C>T , CM000674.1:g.121164829C>T GRCh37
NC_000012.10:g.119649212C>T NCBI36
NG_007991.1:g.6259C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.47C>T MANE Select ENSP00000242592.4:p.Ala16Val
ENST00000242592.8:c.47C>T ENSP00000242592.4:p.Ala16Val
ENST00000411593.2:c.47C>T ENSP00000401045.2:p.Ala16Val
ENST00000539690.1:n.159C>T
NM_000017.3:c.47C>T NP_000008.1:p.Ala16Val
NM_001302554.1:c.47C>T NP_001289483.1:p.Ala16Val
NM_000017.4:c.47C>T MANE Select NP_000008.1:p.Ala16Val
NM_001302554.2:c.47C>T NP_001289483.1:p.Ala16Val
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Search 100 bp 3'