Canonical Allele Identifier: CA291224632

Gene: ITGB3

Linked Data

• dbSNP Id: rs1039892640
• gnomAD v2: 17-45361809-A-G
• gnomAD v4: 17-47284443-A-G
• MyVariant Identifiers: chr17:g.45361809A>G (hg19) ; chr17:g.47284443A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47284443A>G , CM000679.2:g.47284443A>G	GRCh38
NC_000017.10:g.45361809A>G , CM000679.1:g.45361809A>G	GRCh37
NC_000017.9:g.42716808A>G	NCBI36
NG_008332.2:g.35602A>G , LRG_481:g.35602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696963.1:c.362A>G	ENSP00000513002.1:p.Asp121Gly
ENST00000559488.7:c.362A>G MANE Select	ENSP00000452786.2:p.Asp121Gly
ENST00000559488.5:c.362A>G	ENSP00000452786.1:p.Asp121Gly
ENST00000560629.1:c.327A>G
ENST00000571680.1:c.362A>G	ENSP00000461626.1:p.Asp121Gly
NM_000212.2:c.362A>G , LRG_481t1:c.362A>G	NP_000203.2:p.Asp121Gly
NM_000212.3:c.362A>G MANE Select	NP_000203.2:p.Asp121Gly