Canonical Allele Identifier: CA055357
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs762466056
gnomAD v2: 2-21224582-T-C
gnomAD v4: 2-21001710-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001710T>C , CM000664.2:g.21001710T>C GRCh38
NC_000002.11:g.21224582T>C , CM000664.1:g.21224582T>C GRCh37
NC_000002.10:g.21078087T>C NCBI36
NG_011793.1:g.47364A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.*20A>G MANE Select ENSP00000233242.1:n.*20A>G
ENST00000616098.4:c.13710A>G ENSP00000477990.1:n.13710A>G
NM_000384.2:c.*20A>G NP_000375.2:n.*20A>G
XM_011532809.1:c.5870-2437A>G XP_011531111.1:n.5870-2437A>G
NM_000384.3:c.*20A>G MANE Select NP_000375.3:n.*20A>G