Canonical Allele Identifier: CA386601419
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs757880686
gnomAD v3: 12-120738822-C-G
gnomAD v4: 12-120738822-C-G
MyVariant Identifiers: chr12:g.121176625C>G (hg19) chr12:g.120738822C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738822C>G , CM000674.2:g.120738822C>G GRCh38
NC_000012.11:g.121176625C>G , CM000674.1:g.121176625C>G GRCh37
NC_000012.10:g.119661008C>G NCBI36
NG_007991.1:g.18055C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.936C>G MANE Select ENSP00000242592.4:p.Phe312Leu
ENST00000242592.8:c.936C>G ENSP00000242592.4:p.Phe312Leu
ENST00000411593.2:c.924C>G ENSP00000401045.2:p.Phe308Leu
NM_000017.3:c.936C>G NP_000008.1:p.Phe312Leu
NM_001302554.1:c.924C>G NP_001289483.1:p.Phe308Leu
NM_000017.4:c.936C>G MANE Select NP_000008.1:p.Phe312Leu
NM_001302554.2:c.924C>G NP_001289483.1:p.Phe308Leu
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