Canonical Allele Identifier: CA345966861
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001785-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001785G>A , CM000664.2:g.21001785G>A GRCh38
NC_000002.11:g.21224657G>A , CM000664.1:g.21224657G>A GRCh37
NC_000002.10:g.21078162G>A NCBI36
NG_011793.1:g.47289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13637C>T MANE Select ENSP00000233242.1:p.Thr4546Ile
ENST00000616098.4:c.13635C>T ENSP00000477990.1:n.13635C>T
NM_000384.2:c.13637C>T NP_000375.2:p.Thr4546Ile
XM_011532809.1:c.5870-2512C>T XP_011531111.1:n.5870-2512C>T
NM_000384.3:c.13637C>T MANE Select NP_000375.3:p.Thr4546Ile