Canonical Allele Identifier: CA378409977
Community Standard Title: NM_203379.2(ACSL5):c.1358C>A (p.Thr453Lys)
Gene: ACSL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.112421636C>A , CM000672.2:g.112421636C>A GRCh38
NC_000010.10:g.114181394C>A , CM000672.1:g.114181394C>A GRCh37
NC_000010.9:g.114171384C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_203379.2:c.1358C>A MANE Select NP_976313.1:p.Thr453Lys
ENST00000354655.9:c.1358C>A MANE Select ENSP00000346680.4:p.Thr453Lys
NM_001387037.1:c.1526C>A NP_001373966.1:p.Thr509Lys
NM_016234.3:c.1526C>A NP_057318.2:p.Thr509Lys
NM_016234.4:c.1526C>A NP_057318.2:p.Thr509Lys
NM_203379.1:c.1358C>A NP_976313.1:p.Thr453Lys
NM_203380.1:c.1358C>A NP_976314.1:p.Thr453Lys
NM_203380.2:c.1358C>A NP_976314.1:p.Thr453Lys
ENST00000354273.4:c.1358C>A ENSP00000346223.4:p.Thr453Lys
ENST00000354273.5:c.1400C>A ENSP00000346223.5:p.Thr467Lys
ENST00000354655.8:c.1358C>A ENSP00000346680.4:p.Thr453Lys
ENST00000356116.5:c.1526C>A ENSP00000348429.1:p.Thr509Lys
ENST00000356116.6:c.1526C>A ENSP00000348429.1:p.Thr509Lys
ENST00000393081.5:c.1358C>A ENSP00000376796.1:p.Thr453Lys
ENST00000393081.6:c.1358C>A ENSP00000376796.1:p.Thr453Lys
ENST00000433418.5:c.1358C>A ENSP00000403647.1:p.Thr453Lys
ENST00000433418.6:c.1526C>A ENSP00000403647.2:p.Thr509Lys
XM_017016324.2:c.1526C>A XP_016871813.1:p.Thr509Lys