Canonical Allele Identifier: CA500439117
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.45387561G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310195G>C , CM000679.2:g.47310195G>C GRCh38
NC_000017.10:g.45387561G>C , CM000679.1:g.45387561G>C GRCh37
NC_000017.9:g.42742560G>C NCBI36
NG_008332.2:g.61354G>C , LRG_481:g.61354G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2358G>C (ITGB3) MANE Select ENSP00000452786.2:p.Arg786=
ENST00000559488.5:c.2358G>C (ITGB3) ENSP00000452786.1:p.Arg786=
ENST00000560629.1:c.2266+2558G>C
NM_000212.2:c.2358G>C , LRG_481t1:c.2358G>C (ITGB3) NP_000203.2:p.Arg786=
NR_110880.1:n.363-6413C>G (EFCAB13-DT)
NR_110881.1:n.227-6413C>G (EFCAB13-DT)
NM_000212.3:c.2358G>C (ITGB3) MANE Select NP_000203.2:p.Arg786=