Canonical Allele Identifier: CA386612778
Gene: ACADS HGNC NCBI

Linked Data

gnomAD v4: 12-120727028-C-G
MyVariant Identifiers: chr12:g.121164831C>G (hg19) chr12:g.120727028C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727028C>G , CM000674.2:g.120727028C>G GRCh38
NC_000012.11:g.121164831C>G , CM000674.1:g.121164831C>G GRCh37
NC_000012.10:g.119649214C>G NCBI36
NG_007991.1:g.6261C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242592.9:c.49C>G MANE Select ENSP00000242592.4:p.Leu17Val
ENST00000242592.8:c.49C>G ENSP00000242592.4:p.Leu17Val
ENST00000411593.2:c.49C>G ENSP00000401045.2:p.Leu17Val
ENST00000539690.1:n.161C>G
NM_000017.3:c.49C>G NP_000008.1:p.Leu17Val
NM_001302554.1:c.49C>G NP_001289483.1:p.Leu17Val
NM_000017.4:c.49C>G MANE Select NP_000008.1:p.Leu17Val
NM_001302554.2:c.49C>G NP_001289483.1:p.Leu17Val
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