Canonical Allele Identifier: CA346002082
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010576-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010576T>A , CM000664.2:g.21010576T>A GRCh38
NC_000002.11:g.21233448T>A , CM000664.1:g.21233448T>A GRCh37
NC_000002.10:g.21086953T>A NCBI36
NG_011793.1:g.38498A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6292A>T MANE Select ENSP00000233242.1:p.Asn2098Tyr
ENST00000616098.4:c.6292A>T ENSP00000477990.1:p.Asn2098Tyr
NM_000384.2:c.6292A>T NP_000375.2:p.Asn2098Tyr
XM_011532809.1:c.5869+157A>T XP_011531111.1:n.5869+157A>T
NM_000384.3:c.6292A>T MANE Select NP_000375.3:p.Asn2098Tyr