Canonical Allele Identifier: CA346001216
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010226-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010226C>A , CM000664.2:g.21010226C>A GRCh38
NC_000002.11:g.21233098C>A , CM000664.1:g.21233098C>A GRCh37
NC_000002.10:g.21086603C>A NCBI36
NG_011793.1:g.38848G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6642G>T MANE Select ENSP00000233242.1:p.Glu2214Asp
ENST00000616098.4:c.6642G>T ENSP00000477990.1:p.Glu2214Asp
NM_000384.2:c.6642G>T NP_000375.2:p.Glu2214Asp
XM_011532809.1:c.5869+507G>T XP_011531111.1:n.5869+507G>T
NM_000384.3:c.6642G>T MANE Select NP_000375.3:p.Glu2214Asp