Canonical Allele Identifier: CA229337191

Gene: APOA5

Linked Data

• dbSNP Id: rs954609291
• gnomAD v3: 11-116790280-G-A
• gnomAD v4: 11-116790280-G-A
• MyVariant Identifiers: chr11:g.116660996G>A (hg19) ; chr11:g.116790280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790280G>A , CM000673.2:g.116790280G>A	GRCh38
NC_000011.9:g.116660996G>A , CM000673.1:g.116660996G>A	GRCh37
NC_000011.8:g.116166206G>A	NCBI36
NG_015894.1:g.7141C>T
NG_015894.2:g.7141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.949C>T MANE Select	ENSP00000227665.4:p.Pro317Ser
ENST00000433069.2:c.949C>T	ENSP00000399701.2:p.Pro317Ser
ENST00000673688.1:c.1033C>T	ENSP00000501141.1:p.Pro345Ser
ENST00000227665.8:c.949C>T	ENSP00000227665.4:p.Pro317Ser
ENST00000542499.5:c.949C>T	ENSP00000445002.1:p.Pro317Ser
NM_001166598.1:c.949C>T	NP_001160070.1:p.Pro317Ser
NM_052968.4:c.949C>T	NP_443200.2:p.Pro317Ser
NM_001166598.2:c.949C>T	NP_001160070.1:p.Pro317Ser
NM_001371904.1:c.949C>T MANE Select	NP_001358833.1:p.Pro317Ser
NM_052968.5:c.949C>T	NP_443200.2:p.Pro317Ser