Canonical Allele Identifier: CA346000844
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663265360
gnomAD v4: 2-21010132-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010132C>A , CM000664.2:g.21010132C>A GRCh38
NC_000002.11:g.21233004C>A , CM000664.1:g.21233004C>A GRCh37
NC_000002.10:g.21086509C>A NCBI36
NG_011793.1:g.38942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6736G>T MANE Select ENSP00000233242.1:p.Ala2246Ser
ENST00000616098.4:c.6736G>T ENSP00000477990.1:p.Ala2246Ser
NM_000384.2:c.6736G>T NP_000375.2:p.Ala2246Ser
XM_011532809.1:c.5869+601G>T XP_011531111.1:n.5869+601G>T
NM_000384.3:c.6736G>T MANE Select NP_000375.3:p.Ala2246Ser