Canonical Allele Identifier: CA10641174
Gene: ACADS HGNC NCBI

Linked Data

ClinVar Variation Id: 307444
ClinVar RCV Id: RCV000269775
dbSNP Id: rs886049031
gnomAD v3: 12-120739539-G-T
gnomAD v4: 12-120739539-G-T
MyVariant Identifiers: chr12:g.121177342G>T (hg19) chr12:g.120739539G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739539G>T , CM000674.2:g.120739539G>T GRCh38
NC_000012.11:g.121177342G>T , CM000674.1:g.121177342G>T GRCh37
NC_000012.10:g.119661725G>T NCBI36
NG_007991.1:g.18772G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*91G>T MANE Select ENSP00000242592.4:n.*91G>T
ENST00000242592.8:c.*91G>T ENSP00000242592.4:n.*91G>T
ENST00000411593.2:c.*91G>T ENSP00000401045.2:n.*91G>T
NM_000017.3:c.*91G>T NP_000008.1:n.*91G>T
NM_001302554.1:c.*91G>T NP_001289483.1:n.*91G>T
NM_000017.4:c.*91G>T MANE Select NP_000008.1:n.*91G>T
NM_001302554.2:c.*91G>T NP_001289483.1:n.*91G>T
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