Canonical Allele Identifier: CA345967230
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001905-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001905A>T , CM000664.2:g.21001905A>T GRCh38
NC_000002.11:g.21224777A>T , CM000664.1:g.21224777A>T GRCh37
NC_000002.10:g.21078282A>T NCBI36
NG_011793.1:g.47169T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13517T>A MANE Select ENSP00000233242.1:p.Leu4506His
ENST00000616098.4:c.13515T>A ENSP00000477990.1:n.13515T>A
NM_000384.2:c.13517T>A NP_000375.2:p.Leu4506His
XM_011532809.1:c.5870-2632T>A XP_011531111.1:n.5870-2632T>A
NM_000384.3:c.13517T>A MANE Select NP_000375.3:p.Leu4506His