Canonical Allele Identifier: CA6831124
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs747530520
ExAC: 12:121176510 T / C
gnomAD v2: 12-121176510-T-C
gnomAD v4: 12-120738707-T-C
MyVariant Identifiers: chr12:g.121176510T>C (hg19) chr12:g.120738707T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738707T>C , CM000674.2:g.120738707T>C GRCh38
NC_000012.11:g.121176510T>C , CM000674.1:g.121176510T>C GRCh37
NC_000012.10:g.119660893T>C NCBI36
NG_007991.1:g.17940T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.933+37T>C MANE Select ENSP00000242592.4:n.933+37T>C
ENST00000242592.8:c.933+37T>C ENSP00000242592.4:n.933+37T>C
ENST00000411593.2:c.921+37T>C ENSP00000401045.2:n.921+37T>C
NM_000017.3:c.933+37T>C NP_000008.1:n.933+37T>C
NM_001302554.1:c.921+37T>C NP_001289483.1:n.921+37T>C
NM_000017.4:c.933+37T>C MANE Select NP_000008.1:n.933+37T>C
NM_001302554.2:c.921+37T>C NP_001289483.1:n.921+37T>C
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