Canonical Allele Identifier: CA400034646
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.45387508A>T (hg19) chr17:g.47310142A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310142A>T , CM000679.2:g.47310142A>T GRCh38
NC_000017.10:g.45387508A>T , CM000679.1:g.45387508A>T GRCh37
NC_000017.9:g.42742507A>T NCBI36
NG_008332.2:g.61301A>T , LRG_481:g.61301A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559488.7:c.2305A>T (ITGB3) MANE Select ENSP00000452786.2:p.Asn769Tyr
ENST00000559488.5:c.2305A>T (ITGB3) ENSP00000452786.1:p.Asn769Tyr
ENST00000560629.1:c.2266+2505A>T
NM_000212.2:c.2305A>T , LRG_481t1:c.2305A>T (ITGB3) NP_000203.2:p.Asn769Tyr
NR_110880.1:n.363-6360T>A (EFCAB13-DT)
NR_110881.1:n.227-6360T>A (EFCAB13-DT)
NM_000212.3:c.2305A>T (ITGB3) MANE Select NP_000203.2:p.Asn769Tyr
Search 100 bp 5'
Search 100 bp 3'