Canonical Allele Identifier: CA345997185
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21009444-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009444G>A , CM000664.2:g.21009444G>A GRCh38
NC_000002.11:g.21232316G>A , CM000664.1:g.21232316G>A GRCh37
NC_000002.10:g.21085821G>A NCBI36
NG_011793.1:g.39630C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7424C>T MANE Select ENSP00000233242.1:p.Ala2475Val
ENST00000616098.4:c.7424C>T ENSP00000477990.1:p.Ala2475Val
NM_000384.2:c.7424C>T NP_000375.2:p.Ala2475Val
XM_011532809.1:c.5869+1289C>T XP_011531111.1:n.5869+1289C>T
NM_000384.3:c.7424C>T MANE Select NP_000375.3:p.Ala2475Val