Canonical Allele Identifier: CA8641834
Gene: ITGA3 HGNC NCBI
COSMIC:
COSM148295 (not active)
COSM3755651 (not active)
MyVariant.info:
GRCh38 chr17:g.50078061G>A
GRCh37 chr17:g.48155425G>A
Revel Score:
ENST00000007722 0.010
ENST00000538917 0.010
ENST00000320031 (MANE Select) 0.010
ENST00000506827 0.043
gnomAD v2:
17:48155425 G / A
gnomAD v3:
17:50078061 G / A
gnomAD v4:
chr17-50078061-G-A
Joint Max Group AF 0.31382315 (EAS)
Genomes Max Group AF 0.3052175 (EAS)
Exomes Max Group AF 0.31356883 (EAS)
ClinVar RCV:
RCV001635563
ClinVar Variation:
1237071
dbSNP:
2230392
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50078061G>A , CM000679.2:g.50078061G>A GRCh38
NC_000017.10:g.48155425G>A , CM000679.1:g.48155425G>A GRCh37
NC_000017.9:g.45510424G>A NCBI36
NG_029107.2:g.27086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320031.13:c.2155G>A MANE Select ENSP00000315190.8:p.Ala719Thr
ENST00000007722.11:c.2155G>A ENSP00000007722.7:p.Ala719Thr
ENST00000320031.12:c.2155G>A ENSP00000315190.8:p.Ala719Thr
ENST00000505306.5:n.3076G>A
ENST00000506827.1:c.290G>A
ENST00000507771.5:n.64G>A
ENST00000515147.1:n.58G>A
NM_002204.2:c.2155G>A NP_002195.1:p.Ala719Thr
NM_002204.3:c.2155G>A NP_002195.1:p.Ala719Thr
NM_005501.2:c.2155G>A NP_005492.1:p.Ala719Thr
XM_005257308.1:c.1750G>A XP_005257365.1:p.Ala584Thr
XM_005257308.2:c.1750G>A XP_005257365.1:p.Ala584Thr
XR_001752507.1:n.2571G>A
NM_002204.4:c.2155G>A MANE Select NP_002195.1:p.Ala719Thr
Search 100 bp 5'
Search 100 bp 3'