Canonical Allele Identifier: CA6830828
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 307435
ClinVar RCV Id: RCV000377601 RCV003897704
dbSNP Id: rs768784437
ExAC: 12:121174914 C / T
gnomAD v2: 12-121174914-C-T
gnomAD v3: 12-120737111-C-T
gnomAD v4: 12-120737111-C-T
MyVariant Identifiers: chr12:g.121174914C>T (hg19) chr12:g.120737111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120737111C>T , CM000674.2:g.120737111C>T GRCh38
NC_000012.11:g.121174914C>T , CM000674.1:g.121174914C>T GRCh37
NC_000012.10:g.119659297C>T NCBI36
NG_007991.1:g.16344C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.336C>T MANE Select ENSP00000242592.4:p.Thr112=
ENST00000242592.8:c.336C>T ENSP00000242592.4:p.Thr112=
ENST00000411593.2:c.336C>T ENSP00000401045.2:p.Thr112=
ENST00000539690.1:n.448C>T
NM_000017.3:c.336C>T NP_000008.1:p.Thr112=
NM_001302554.1:c.336C>T NP_001289483.1:p.Thr112=
NM_000017.4:c.336C>T MANE Select NP_000008.1:p.Thr112=
NM_001302554.2:c.336C>T NP_001289483.1:p.Thr112=
Search 100 bp 5'
Search 100 bp 3'