Canonical Allele Identifier: CA400034839
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310187A>G , CM000679.2:g.47310187A>G GRCh38
NC_000017.10:g.45387553A>G , CM000679.1:g.45387553A>G GRCh37
NC_000017.9:g.42742552A>G NCBI36
NG_008332.2:g.61346A>G , LRG_481:g.61346A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2350A>G (ITGB3) MANE Select ENSP00000452786.2:p.Thr784Ala
ENST00000559488.5:c.2350A>G (ITGB3) ENSP00000452786.1:p.Thr784Ala
ENST00000560629.1:c.2266+2550A>G
NM_000212.2:c.2350A>G , LRG_481t1:c.2350A>G (ITGB3) NP_000203.2:p.Thr784Ala
NR_110880.1:n.363-6405T>C (EFCAB13-DT)
NR_110881.1:n.227-6405T>C (EFCAB13-DT)
NM_000212.3:c.2350A>G (ITGB3) MANE Select NP_000203.2:p.Thr784Ala