Canonical Allele Identifier: CA345988270
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006952C>A , CM000664.2:g.21006952C>A GRCh38
NC_000002.11:g.21229824C>A , CM000664.1:g.21229824C>A GRCh37
NC_000002.10:g.21083329C>A NCBI36
NG_011793.1:g.42122G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9916G>T MANE Select ENSP00000233242.1:p.Val3306Phe
ENST00000616098.4:c.9916G>T ENSP00000477990.1:p.Val3306Phe
NM_000384.2:c.9916G>T NP_000375.2:p.Val3306Phe
XM_011532809.1:c.5869+3781G>T XP_011531111.1:n.5869+3781G>T
NM_000384.3:c.9916G>T MANE Select NP_000375.3:p.Val3306Phe