Canonical Allele Identifier: CA346001184
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010219-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010219G>T , CM000664.2:g.21010219G>T GRCh38
NC_000002.11:g.21233091G>T , CM000664.1:g.21233091G>T GRCh37
NC_000002.10:g.21086596G>T NCBI36
NG_011793.1:g.38855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6649C>A MANE Select ENSP00000233242.1:p.His2217Asn
ENST00000616098.4:c.6649C>A ENSP00000477990.1:p.His2217Asn
NM_000384.2:c.6649C>A NP_000375.2:p.His2217Asn
XM_011532809.1:c.5869+514C>A XP_011531111.1:n.5869+514C>A
NM_000384.3:c.6649C>A MANE Select NP_000375.3:p.His2217Asn