Canonical Allele Identifier: CA2262615955
Community Standard Title: NM_000212.3(ITGB3):c.2332T= (p.Ser778=)
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310169T= , CM000679.2:g.47310169T= GRCh38
NC_000017.10:g.45387535T= , CM000679.1:g.45387535T= GRCh37
NC_000017.9:g.42742534T= NCBI36
NG_008332.2:g.61328T= , LRG_481:g.61328T=

Transcript Alleles

HGVS Amino-acid Change
NM_000212.3:c.2332T= (ITGB3) MANE Select NP_000203.2:p.Ser778=
ENST00000559488.7:c.2332T= (ITGB3) MANE Select ENSP00000452786.2:p.Ser778=
NM_000212.2:c.2332T= , LRG_481t1:c.2332T= (ITGB3) NP_000203.2:p.Ser778=
NR_110880.1:n.363-6387A= (EFCAB13-DT)
NR_110881.1:n.227-6387A= (EFCAB13-DT)
ENST00000559488.5:c.2332T= (ITGB3) ENSP00000452786.1:p.Ser778=
ENST00000560629.1:c.2266+2532T=