Canonical Allele Identifier: CA386601819
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1883579581
gnomAD v3: 12-120739327-T-G
gnomAD v4: 12-120739327-T-G
MyVariant Identifiers: chr12:g.121177130T>G (hg19) chr12:g.120739327T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739327T>G , CM000674.2:g.120739327T>G GRCh38
NC_000012.11:g.121177130T>G , CM000674.1:g.121177130T>G GRCh37
NC_000012.10:g.119661513T>G NCBI36
NG_007991.1:g.18560T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.1118T>G MANE Select ENSP00000242592.4:p.Val373Gly
ENST00000242592.8:c.1118T>G ENSP00000242592.4:p.Val373Gly
ENST00000411593.2:c.1106T>G ENSP00000401045.2:p.Val369Gly
NM_000017.3:c.1118T>G NP_000008.1:p.Val373Gly
NM_001302554.1:c.1106T>G NP_001289483.1:p.Val369Gly
NM_000017.4:c.1118T>G MANE Select NP_000008.1:p.Val373Gly
NM_001302554.2:c.1106T>G NP_001289483.1:p.Val369Gly
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