Canonical Allele Identifier: CA2262616407
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47311220T>C , CM000679.2:g.47311220T>C GRCh38
NC_000017.10:g.45388586T>C , CM000679.1:g.45388586T>C GRCh37
NC_000017.9:g.42743585T>C NCBI36
NG_008332.2:g.62379T>C , LRG_481:g.62379T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.*1016T>C (ITGB3) MANE Select ENSP00000452786.2:n.*1016T>C
ENST00000559488.5:c.*1016T>C (ITGB3) ENSP00000452786.1:n.*1016T>C
ENST00000560629.1:c.2266+3583T>C
NM_000212.2:c.*1016T>C , LRG_481t1:c.*1016T>C (ITGB3) NP_000203.2:n.*1016T>C
NR_110880.1:n.362+7252A>G (EFCAB13-DT)
NR_110881.1:n.226+7252A>G (EFCAB13-DT)
NM_000212.3:c.*1016T>C (ITGB3) MANE Select NP_000203.2:n.*1016T>C