Canonical Allele Identifier: CA346001246
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010230-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010230T>C , CM000664.2:g.21010230T>C GRCh38
NC_000002.11:g.21233102T>C , CM000664.1:g.21233102T>C GRCh37
NC_000002.10:g.21086607T>C NCBI36
NG_011793.1:g.38844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6638A>G MANE Select ENSP00000233242.1:p.Asp2213Gly
ENST00000616098.4:c.6638A>G ENSP00000477990.1:p.Asp2213Gly
NM_000384.2:c.6638A>G NP_000375.2:p.Asp2213Gly
XM_011532809.1:c.5869+503A>G XP_011531111.1:n.5869+503A>G
NM_000384.3:c.6638A>G MANE Select NP_000375.3:p.Asp2213Gly