Canonical Allele Identifier: CA2638437949
Gene: ITGB3 HGNC NCBI
EFCAB13-DT HGNC NCBI

Linked Data

gnomAD v4: 17-47310117-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47310117T>A , CM000679.2:g.47310117T>A GRCh38
NC_000017.10:g.45387483T>A , CM000679.1:g.45387483T>A GRCh37
NC_000017.9:g.42742482T>A NCBI36
NG_008332.2:g.61276T>A , LRG_481:g.61276T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000559488.7:c.2302-22T>A (ITGB3) MANE Select ENSP00000452786.2:n.2302-22T>A
ENST00000559488.5:c.2302-22T>A (ITGB3) ENSP00000452786.1:n.2302-22T>A
ENST00000560629.1:c.2266+2480T>A
NM_000212.2:c.2302-22T>A , LRG_481t1:c.2302-22T>A (ITGB3) NP_000203.2:n.2302-22T>A
NR_110880.1:n.363-6335A>T (EFCAB13-DT)
NR_110881.1:n.227-6335A>T (EFCAB13-DT)
NM_000212.3:c.2302-22T>A (ITGB3) MANE Select NP_000203.2:n.2302-22T>A
Search 100 bp 5'
Search 100 bp 3'