Canonical Allele Identifier: CA345967030
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001818-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001818A>T , CM000664.2:g.21001818A>T GRCh38
NC_000002.11:g.21224690A>T , CM000664.1:g.21224690A>T GRCh37
NC_000002.10:g.21078195A>T NCBI36
NG_011793.1:g.47256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13604T>A MANE Select ENSP00000233242.1:p.Ile4535Asn
ENST00000616098.4:c.13602T>A ENSP00000477990.1:n.13602T>A
NM_000384.2:c.13604T>A NP_000375.2:p.Ile4535Asn
XM_011532809.1:c.5870-2545T>A XP_011531111.1:n.5870-2545T>A
NM_000384.3:c.13604T>A MANE Select NP_000375.3:p.Ile4535Asn