Canonical Allele Identifier: CA400034910
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310200C>G , CM000679.2:g.47310200C>G GRCh38
NC_000017.10:g.45387566C>G , CM000679.1:g.45387566C>G GRCh37
NC_000017.9:g.42742565C>G NCBI36
NG_008332.2:g.61359C>G , LRG_481:g.61359C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2363C>G (ITGB3) MANE Select ENSP00000452786.2:p.Thr788Ser
ENST00000559488.5:c.2363C>G (ITGB3) ENSP00000452786.1:p.Thr788Ser
ENST00000560629.1:c.2266+2563C>G
NM_000212.2:c.2363C>G , LRG_481t1:c.2363C>G (ITGB3) NP_000203.2:p.Thr788Ser
NR_110880.1:n.363-6418G>C (EFCAB13-DT)
NR_110881.1:n.227-6418G>C (EFCAB13-DT)
NM_000212.3:c.2363C>G (ITGB3) MANE Select NP_000203.2:p.Thr788Ser