Canonical Allele Identifier: CA400034843
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.45387554C>A (hg19) chr17:g.47310188C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310188C>A , CM000679.2:g.47310188C>A GRCh38
NC_000017.10:g.45387554C>A , CM000679.1:g.45387554C>A GRCh37
NC_000017.9:g.42742553C>A NCBI36
NG_008332.2:g.61347C>A , LRG_481:g.61347C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2351C>A (ITGB3) MANE Select ENSP00000452786.2:p.Thr784Lys
ENST00000559488.5:c.2351C>A (ITGB3) ENSP00000452786.1:p.Thr784Lys
ENST00000560629.1:c.2266+2551C>A
NM_000212.2:c.2351C>A , LRG_481t1:c.2351C>A (ITGB3) NP_000203.2:p.Thr784Lys
NR_110880.1:n.363-6406G>T (EFCAB13-DT)
NR_110881.1:n.227-6406G>T (EFCAB13-DT)
NM_000212.3:c.2351C>A (ITGB3) MANE Select NP_000203.2:p.Thr784Lys
Search 100 bp 5'
Search 100 bp 3'