Canonical Allele Identifier: CA386601378
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120738661G>C , CM000674.2:g.120738661G>C GRCh38
NC_000012.11:g.121176464G>C , CM000674.1:g.121176464G>C GRCh37
NC_000012.10:g.119660847G>C NCBI36
NG_007991.1:g.17894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.924G>C MANE Select ENSP00000242592.4:p.Gln308His
ENST00000242592.8:c.924G>C ENSP00000242592.4:p.Gln308His
ENST00000411593.2:c.912G>C ENSP00000401045.2:p.Gln304His
NM_000017.3:c.924G>C NP_000008.1:p.Gln308His
NM_001302554.1:c.912G>C NP_001289483.1:p.Gln304His
NM_000017.4:c.924G>C MANE Select NP_000008.1:p.Gln308His
NM_001302554.2:c.912G>C NP_001289483.1:p.Gln304His