Canonical Allele Identifier: CA386612788
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727032G>T , CM000674.2:g.120727032G>T GRCh38
NC_000012.11:g.121164835G>T , CM000674.1:g.121164835G>T GRCh37
NC_000012.10:g.119649218G>T NCBI36
NG_007991.1:g.6265G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.53G>T MANE Select ENSP00000242592.4:p.Cys18Phe
ENST00000242592.8:c.53G>T ENSP00000242592.4:p.Cys18Phe
ENST00000411593.2:c.53G>T ENSP00000401045.2:p.Cys18Phe
ENST00000539690.1:n.165G>T
NM_000017.3:c.53G>T NP_000008.1:p.Cys18Phe
NM_001302554.1:c.53G>T NP_001289483.1:p.Cys18Phe
NM_000017.4:c.53G>T MANE Select NP_000008.1:p.Cys18Phe
NM_001302554.2:c.53G>T NP_001289483.1:p.Cys18Phe