Canonical Allele Identifier: CA386601368
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738656C>G , CM000674.2:g.120738656C>G GRCh38
NC_000012.11:g.121176459C>G , CM000674.1:g.121176459C>G GRCh37
NC_000012.10:g.119660842C>G NCBI36
NG_007991.1:g.17889C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.919C>G MANE Select ENSP00000242592.4:p.Leu307Val
ENST00000242592.8:c.919C>G ENSP00000242592.4:p.Leu307Val
ENST00000411593.2:c.907C>G ENSP00000401045.2:p.Leu303Val
NM_000017.3:c.919C>G NP_000008.1:p.Leu307Val
NM_001302554.1:c.907C>G NP_001289483.1:p.Leu303Val
NM_000017.4:c.919C>G MANE Select NP_000008.1:p.Leu307Val
NM_001302554.2:c.907C>G NP_001289483.1:p.Leu303Val