Canonical Allele Identifier: CA244495093
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs555045670
gnomAD v2: 12-121176859-A-G
gnomAD v3: 12-120739056-A-G
gnomAD v4: 12-120739056-A-G
MyVariant Identifiers: chr12:g.121176859A>G (hg19) chr12:g.120739056A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739056A>G , CM000674.2:g.120739056A>G GRCh38
NC_000012.11:g.121176859A>G , CM000674.1:g.121176859A>G GRCh37
NC_000012.10:g.119661242A>G NCBI36
NG_007991.1:g.18289A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.1030-84A>G MANE Select ENSP00000242592.4:n.1030-84A>G
ENST00000242592.8:c.1030-84A>G ENSP00000242592.4:n.1030-84A>G
ENST00000411593.2:c.1018-84A>G ENSP00000401045.2:n.1018-84A>G
NM_000017.3:c.1030-84A>G NP_000008.1:n.1030-84A>G
NM_001302554.1:c.1018-84A>G NP_001289483.1:n.1018-84A>G
NM_000017.4:c.1030-84A>G MANE Select NP_000008.1:n.1030-84A>G
NM_001302554.2:c.1018-84A>G NP_001289483.1:n.1018-84A>G
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