Canonical Allele Identifier: CA378405982
Gene: ACSL5 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.112409525T>C , CM000672.2:g.112409525T>C GRCh38
NC_000010.10:g.114169283T>C , CM000672.1:g.114169283T>C GRCh37
NC_000010.9:g.114159273T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354273.5:c.719T>C ENSP00000346223.5:p.Ile240Thr
ENST00000354655.9:c.551T>C MANE Select ENSP00000346680.4:p.Ile184Thr
ENST00000356116.6:c.719T>C ENSP00000348429.1:p.Ile240Thr
ENST00000393081.6:c.551T>C ENSP00000376796.1:p.Ile184Thr
ENST00000433418.6:c.719T>C ENSP00000403647.2:p.Ile240Thr
ENST00000354273.4:c.551T>C ENSP00000346223.4:p.Ile184Thr
ENST00000354655.8:c.551T>C ENSP00000346680.4:p.Ile184Thr
ENST00000356116.5:c.719T>C ENSP00000348429.1:p.Ile240Thr
ENST00000393081.5:c.551T>C ENSP00000376796.1:p.Ile184Thr
ENST00000433418.5:c.551T>C ENSP00000403647.1:p.Ile184Thr
NM_016234.3:c.719T>C NP_057318.2:p.Ile240Thr
NM_203379.1:c.551T>C NP_976313.1:p.Ile184Thr
NM_203380.1:c.551T>C NP_976314.1:p.Ile184Thr
XM_017016324.2:c.719T>C XP_016871813.1:p.Ile240Thr
NM_203379.2:c.551T>C MANE Select NP_976313.1:p.Ile184Thr
NM_001387037.1:c.719T>C NP_001373966.1:p.Ile240Thr
NM_016234.4:c.719T>C NP_057318.2:p.Ile240Thr
NM_203380.2:c.551T>C NP_976314.1:p.Ile184Thr