Canonical Allele Identifier: CA345988685
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007054A>G , CM000664.2:g.21007054A>G GRCh38
NC_000002.11:g.21229926A>G , CM000664.1:g.21229926A>G GRCh37
NC_000002.10:g.21083431A>G NCBI36
NG_011793.1:g.42020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9814T>C MANE Select ENSP00000233242.1:p.Tyr3272His
ENST00000616098.4:c.9814T>C ENSP00000477990.1:p.Tyr3272His
NM_000384.2:c.9814T>C NP_000375.2:p.Tyr3272His
XM_011532809.1:c.5869+3679T>C XP_011531111.1:n.5869+3679T>C
NM_000384.3:c.9814T>C MANE Select NP_000375.3:p.Tyr3272His