Canonical Allele Identifier: CA2262614805
Community Standard Title: NM_000212.3(ITGB3):c.2245G= (p.Asp749=)
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47307581G= , CM000679.2:g.47307581G= GRCh38
NC_000017.10:g.45384947G= , CM000679.1:g.45384947G= GRCh37
NC_000017.9:g.42739946G= NCBI36
NG_008332.2:g.58740G= , LRG_481:g.58740G=

Transcript Alleles

HGVS Amino-acid Change
NM_000212.3:c.2245G= (ITGB3) MANE Select NP_000203.2:p.Asp749=
ENST00000559488.7:c.2245G= (ITGB3) MANE Select ENSP00000452786.2:p.Asp749=
NM_000212.2:c.2245G= , LRG_481t1:c.2245G= (ITGB3) NP_000203.2:p.Asp749=
NR_110880.1:n.363-3799C= (EFCAB13-DT)
NR_110881.1:n.227-3799C= (EFCAB13-DT)
ENST00000559488.5:c.2245G= (ITGB3) ENSP00000452786.1:p.Asp749=
ENST00000560629.1:c.2210G=
ENST00000696963.1:c.2245G= (ITGB3) ENSP00000513002.1:p.Asp749=