Canonical Allele Identifier: CA400034818
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310182A>T , CM000679.2:g.47310182A>T GRCh38
NC_000017.10:g.45387548A>T , CM000679.1:g.45387548A>T GRCh37
NC_000017.9:g.42742547A>T NCBI36
NG_008332.2:g.61341A>T , LRG_481:g.61341A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2345A>T (ITGB3) MANE Select ENSP00000452786.2:p.Asn782Ile
ENST00000559488.5:c.2345A>T (ITGB3) ENSP00000452786.1:p.Asn782Ile
ENST00000560629.1:c.2266+2545A>T
NM_000212.2:c.2345A>T , LRG_481t1:c.2345A>T (ITGB3) NP_000203.2:p.Asn782Ile
NR_110880.1:n.363-6400T>A (EFCAB13-DT)
NR_110881.1:n.227-6400T>A (EFCAB13-DT)
NM_000212.3:c.2345A>T (ITGB3) MANE Select NP_000203.2:p.Asn782Ile