Canonical Allele Identifier: CA382738461
Gene: APOA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790812C>A , CM000673.2:g.116790812C>A GRCh38
NC_000011.9:g.116661528C>A , CM000673.1:g.116661528C>A GRCh37
NC_000011.8:g.116166738C>A NCBI36
NG_015894.1:g.6609G>T
NG_015894.2:g.6609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.417G>T MANE Select ENSP00000227665.4:p.Gln139His
ENST00000433069.2:c.417G>T ENSP00000399701.2:p.Gln139His
ENST00000673688.1:c.501G>T ENSP00000501141.1:p.Gln167His
ENST00000227665.8:c.417G>T ENSP00000227665.4:p.Gln139His
ENST00000433069.1:c.417G>T ENSP00000399701.1:p.Gln139His
ENST00000542499.5:c.417G>T ENSP00000445002.1:p.Gln139His
NM_001166598.1:c.417G>T NP_001160070.1:p.Gln139His
NM_052968.4:c.417G>T NP_443200.2:p.Gln139His
NM_001166598.2:c.417G>T NP_001160070.1:p.Gln139His
NM_001371904.1:c.417G>T MANE Select NP_001358833.1:p.Gln139His
NM_052968.5:c.417G>T NP_443200.2:p.Gln139His