Canonical Allele Identifier: CA346001914
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010499-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010499A>C , CM000664.2:g.21010499A>C GRCh38
NC_000002.11:g.21233371A>C , CM000664.1:g.21233371A>C GRCh37
NC_000002.10:g.21086876A>C NCBI36
NG_011793.1:g.38575T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6369T>G MANE Select ENSP00000233242.1:p.Asn2123Lys
ENST00000616098.4:c.6369T>G ENSP00000477990.1:p.Asn2123Lys
NM_000384.2:c.6369T>G NP_000375.2:p.Asn2123Lys
XM_011532809.1:c.5869+234T>G XP_011531111.1:n.5869+234T>G
NM_000384.3:c.6369T>G MANE Select NP_000375.3:p.Asn2123Lys