Canonical Allele Identifier: CA386613086
Gene: ACADS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120727116G>T , CM000674.2:g.120727116G>T GRCh38
NC_000012.11:g.121164919G>T , CM000674.1:g.121164919G>T GRCh37
NC_000012.10:g.119649302G>T NCBI36
NG_007991.1:g.6349G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.137G>T MANE Select ENSP00000242592.4:p.Arg46Leu
ENST00000242592.8:c.137G>T ENSP00000242592.4:p.Arg46Leu
ENST00000411593.2:c.137G>T ENSP00000401045.2:p.Arg46Leu
ENST00000539690.1:n.249G>T
NM_000017.3:c.137G>T NP_000008.1:p.Arg46Leu
NM_001302554.1:c.137G>T NP_001289483.1:p.Arg46Leu
NM_000017.4:c.137G>T MANE Select NP_000008.1:p.Arg46Leu
NM_001302554.2:c.137G>T NP_001289483.1:p.Arg46Leu