Canonical Allele Identifier: CA382738410
Gene: APOA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790790G>T , CM000673.2:g.116790790G>T GRCh38
NC_000011.9:g.116661506G>T , CM000673.1:g.116661506G>T GRCh37
NC_000011.8:g.116166716G>T NCBI36
NG_015894.1:g.6631C>A
NG_015894.2:g.6631C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.439C>A MANE Select ENSP00000227665.4:p.Leu147Met
ENST00000433069.2:c.439C>A ENSP00000399701.2:p.Leu147Met
ENST00000673688.1:c.523C>A ENSP00000501141.1:p.Leu175Met
ENST00000227665.8:c.439C>A ENSP00000227665.4:p.Leu147Met
ENST00000433069.1:c.439C>A ENSP00000399701.1:p.Leu147Met
ENST00000542499.5:c.439C>A ENSP00000445002.1:p.Leu147Met
NM_001166598.1:c.439C>A NP_001160070.1:p.Leu147Met
NM_052968.4:c.439C>A NP_443200.2:p.Leu147Met
NM_001166598.2:c.439C>A NP_001160070.1:p.Leu147Met
NM_001371904.1:c.439C>A MANE Select NP_001358833.1:p.Leu147Met
NM_052968.5:c.439C>A NP_443200.2:p.Leu147Met