Canonical Allele Identifier: CA10641178
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 307449
ClinVar RCV Id: RCV000387438
dbSNP Id: rs537512881
gnomAD v2: 12-121177517-G-T
gnomAD v3: 12-120739714-G-T
gnomAD v4: 12-120739714-G-T
MyVariant Identifiers: chr12:g.121177517G>T (hg19) chr12:g.120739714G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739714G>T , CM000674.2:g.120739714G>T GRCh38
NC_000012.11:g.121177517G>T , CM000674.1:g.121177517G>T GRCh37
NC_000012.10:g.119661900G>T NCBI36
NG_007991.1:g.18947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*266G>T MANE Select ENSP00000242592.4:n.*266G>T
ENST00000242592.8:c.*266G>T ENSP00000242592.4:n.*266G>T
NM_000017.3:c.*266G>T NP_000008.1:n.*266G>T
NM_001302554.1:c.*266G>T NP_001289483.1:n.*266G>T
NM_000017.4:c.*266G>T MANE Select NP_000008.1:n.*266G>T
NM_001302554.2:c.*266G>T NP_001289483.1:n.*266G>T
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