Canonical Allele Identifier: CA500439109
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.45387558C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310192C>T , CM000679.2:g.47310192C>T GRCh38
NC_000017.10:g.45387558C>T , CM000679.1:g.45387558C>T GRCh37
NC_000017.9:g.42742557C>T NCBI36
NG_008332.2:g.61351C>T , LRG_481:g.61351C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2355C>T (ITGB3) MANE Select ENSP00000452786.2:p.Tyr785=
ENST00000559488.5:c.2355C>T (ITGB3) ENSP00000452786.1:p.Tyr785=
ENST00000560629.1:c.2266+2555C>T
NM_000212.2:c.2355C>T , LRG_481t1:c.2355C>T (ITGB3) NP_000203.2:p.Tyr785=
NR_110880.1:n.363-6410G>A (EFCAB13-DT)
NR_110881.1:n.227-6410G>A (EFCAB13-DT)
NM_000212.3:c.2355C>T (ITGB3) MANE Select NP_000203.2:p.Tyr785=