Canonical Allele Identifier: CA345967276
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001924-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001924G>T , CM000664.2:g.21001924G>T GRCh38
NC_000002.11:g.21224796G>T , CM000664.1:g.21224796G>T GRCh37
NC_000002.10:g.21078301G>T NCBI36
NG_011793.1:g.47150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13498C>A MANE Select ENSP00000233242.1:p.Gln4500Lys
ENST00000616098.4:c.13496C>A ENSP00000477990.1:n.13496C>A
NM_000384.2:c.13498C>A NP_000375.2:p.Gln4500Lys
XM_011532809.1:c.5870-2651C>A XP_011531111.1:n.5870-2651C>A
NM_000384.3:c.13498C>A MANE Select NP_000375.3:p.Gln4500Lys