Canonical Allele Identifier: CA43505462
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs79087014
gnomAD v4: 2-21010530-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010530G>A , CM000664.2:g.21010530G>A GRCh38
NC_000002.11:g.21233402G>A , CM000664.1:g.21233402G>A GRCh37
NC_000002.10:g.21086907G>A NCBI36
NG_011793.1:g.38544C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.6338C>T MANE Select ENSP00000233242.1:p.Ala2113Val
ENST00000616098.4:c.6338C>T ENSP00000477990.1:p.Ala2113Val
NM_000384.2:c.6338C>T NP_000375.2:p.Ala2113Val
XM_011532809.1:c.5869+203C>T XP_011531111.1:n.5869+203C>T
NM_000384.3:c.6338C>T MANE Select NP_000375.3:p.Ala2113Val